An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Glycogen is a multibranched polysaccharide of glucose serving as the primary form of energy storage in animals, fungi, and bacteria, stored mainly in liver and muscle tissues. (Two sentences combined as per your request)
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
An enzyme that catalyzes the conversion of D-glucose 6-phosphate and water to D-glucose and orthophosphate. EC 3.1.3.9.
Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III.
A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Glycogen stored in the liver. (Dorland, 28th ed)
An enzyme that catalyzes the transfer of D-glucose from UDPglucose into 1,4-alpha-D-glucosyl chains. EC 2.4.1.11.
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
An enzyme that catalyzes the hydrolysis of terminal 1,4-linked alpha-D-glucose residues successively from non-reducing ends of polysaccharide chains with the release of beta-glucose. It is also able to hydrolyze 1,6-alpha-glucosidic bonds when the next bond in sequence is 1,4.
An ester of glucose with phosphoric acid, made in the course of glucose metabolism by mammalian and other cells. It is a normal constituent of resting muscle and probably is in constant equilibrium with fructose-6-phosphate. (Stedman, 26th ed)
Membrane transporters that co-transport two or more dissimilar molecules in the opposite direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.
A benign epithelial tumor of the LIVER.
A highly branched glucan in starch.
In glycogen or amylopectin synthesis, the enzyme that catalyzes the transfer of a segment of a 1,4-alpha-glucan chain to a primary hydroxy group in a similar glucan chain. EC 2.4.1.18.
Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses.
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Enlargement of the liver.
An enzyme that catalyzes the degradation of GLYCOGEN in animals by releasing glucose-1-phosphate from the terminal alpha-1,4-glycosidic bond. This enzyme exists in two forms: an active phosphorylated form ( PHOSPHORYLASE A) and an inactive un-phosphorylated form (PHOSPHORYLASE B). Both a and b forms of phosphorylase exist as homodimers. In mammals, the major isozymes of glycogen phosphorylase are found in muscle, liver and brain tissue.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
A large group of membrane transport proteins that shuttle MONOSACCHARIDES across CELL MEMBRANES.
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.
An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.
The inactive form of GLYCOGEN PHOSPHORYLASE that is converted to the active form PHOSPHORYLASE A via phosphorylation by PHOSPHORYLASE KINASE and ATP.
Any of a group of polysaccharides of the general formula (C6-H10-O5)n, composed of a long-chain polymer of glucose in the form of amylose and amylopectin. It is the chief storage form of energy reserve (carbohydrates) in plants.
A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE).
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
Contractile tissue that produces movement in animals.
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
A purine and a reaction intermediate in the metabolism of adenosine and in the formation of nucleic acids by the salvage pathway.
An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
Glucose in blood.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
A class of protein-serine-threonine kinases that was originally found as one of the three types of kinases that phosphorylate GLYCOGEN SYNTHASE. Glycogen synthase kinases along with CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASES and CYCLIC AMP-DEPENDENT PROTEIN KINASES regulate glycogen synthase activity.
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A purine nucleoside that has hypoxanthine linked by the N9 nitrogen to the C1 carbon of ribose. It is an intermediate in the degradation of purines and purine nucleosides to uric acid and in pathways of purine salvage. It also occurs in the anticodon of certain transfer RNA molecules. (Dorland, 28th ed)
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.
An individual having different alleles at one or more loci regarding a specific character.
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Tumors or cancer of the LIVER.
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
The process of keeping pharmaceutical products in an appropriate location.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
A decrease in the number of NEUTROPHILS found in the blood.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A benign epithelial tumor with a glandular organization.
Artifactual vesicles formed from the endoplasmic reticulum when cells are disrupted. They are isolated by differential centrifugation and are composed of three structural features: rough vesicles, smooth vesicles, and ribosomes. Numerous enzyme activities are associated with the microsomal fraction. (Glick, Glossary of Biochemistry and Molecular Biology, 1990; from Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Biochemical identification of mutational changes in a nucleotide sequence.
A family of non-enveloped viruses infecting mammals (MASTADENOVIRUS) and birds (AVIADENOVIRUS) or both (ATADENOVIRUS). Infections may be asymptomatic or result in a variety of diseases.
A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease. (1/129)

Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.  (+info)

Left ventricular aneurysm without coronary artery disease, incidence and clinical features: clinical analysis of 11 cases. (2/129)

OBJECTIVE: To examine the incidence, underlying disease and clinical features of left ventricular aneurysm (LVA) not related to coronary artery occlusion. METHODS: Retrospective review of consecutive patients who underwent both left ventriculography and coronary angiography. PATIENTS: LVA was confirmed in 11 of 2,348 consecutive patients (0.47%). RESULTS: The location of LVA was mainly in the apical region (81.8%). In five of the 11 patients (45.5%), the underlying heart disease was hypertrophic cardiomyopathy (HCM), including 4 patients of dilated phase and one patient of midventricular type. The serial ECG changes from left ventricular hypertrophy to abnormal Q wave and endomyocardial biopsy were useful for the differential diagnosis of these cases against myocardial infarction. The underlying disease of the remaining patients was: myocarditis (2 patients), arrhythmogenic right ventricular dysplasia (1 patient), Chagas' disease (1 patient), glycogen storage disease (1 patient), and sarcoidosis (1 patient). Ventricular tachycardia appeared in 9 of 11 cases (81.8%) including 2 patients with sustained ventricular tachycardia. CONCLUSION: LVA formation without coronary artery disease was a rare phenomenon. The underlying disease was varied but the incidence of hypertrophic cardiomyopathy in the dilated phase was comparatively high. Ventricular tachycardia was a significant complication in these patients.  (+info)

Glycogen storage disease associated with left ventricular aneurysm in an elderly patient. (3/129)

Glycogen storage disease (GSD) types II, III, IV, and V may be associated with cardiomyopathy, but, with the exception of type III GSD, adult cases are extremely rare. A 62-year-old man was found to have GSD and a concomitant left ventricular aneurysm. He had been comparatively well until the age of 62 years, although he had suffered a cerebral infarction at the age of 35 years. The damage caused by glycogen deposition was strictly confined to the myocardium. Left ventriculography revealed a left ventricular aneurysm in the apex. The serial change on electrocardiogram, as well as the findings of the echocardiogram and of cardiac catheterization, resembled those of the dilated phase of hypertrophic cardiomyopathy. However, a left ventricular endomyocardial biopsy specimen revealed central vacuolar degeneration of myocytes with depositions of glycogen. The GSD type remains unknown in the present patient, because the activity of debranching enzyme (type III) measured from the skeletal muscle specimen was normal, whereas that of acid maltase (type II) was slightly low. It is possible that there is a specific malfunction of the acid maltase of the myocardium in the present patient.  (+info)

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (4/129)

Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. To understand the mechanisms by which PRKAG2 defects cause disease, we defined novel mutations, characterized the associated cardiac histopathology, and studied the consequences of introducing these mutations into the yeast homologue of PRKAG2, Snf4. Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. Instead PRKAG2 mutations caused pronounced vacuole formation within myocytes. Several lines of evidence indicated these vacuoles were filled with glycogen-associated granules. Analyses of the effects of human PRKAG2 mutations on Snf1/Snf4 kinase function demonstrated constitutive activity, which could foster glycogen accumulation. Taken together, our data indicate that PRKAG2 mutations do not cause hypertrophic cardiomyopathy but rather lead to a novel myocardial metabolic storage disease, in which hypertrophy, ventricular pre-excitation and conduction system defects coexist.  (+info)

Severe diaphragmatic necrosis in 4 horses with degenerative myopathy. (5/129)

Severe diaphragmatic necrosis occurred in horses with degenerative myopathy due to polysaccharide storage myopathy (n = 2), nutritional myopathy (n = 1), and vasculitis (n = 1). Blood gas analysis performed in 1 horse indicated development of respiratory acidosis. Respiratory muscle necrosis can be severe in horses with degenerative myopathy and can lead to respiratory failure.  (+info)

Establishment of inbred strains of chicken and Japanese quail and their potential as animal models. (6/129)

We started establishing inbred strains of chicken and Japanese quail in 1970. In class Aves, full sib mating is highly difficult due to inbreeding depression. In the chicken, we attempted to establish some inbred strains in three breeds, Black Minorca, White Leghorn and Fayoumi by fixing all the characters that differentiate individuals homozygously. In this paper, we describe some marker genes and characters fixed in the inbred strains of chicken and Japanese quail as well as a calculation of a putative coefficient of inbreeding in 8 chicken inbred strains using band sharing values detected by AFLP analysis. We established generalized glycogenosis type II quail, myotonic dystrophy quail, neurofilament deficient quail, visually impaired chicken, double oviduct chicken with partial kidney deficiency, chicken showing spontaneous lymphocytic thyroiditis with feathered amelanosis, and chicken with a hereditary nervous disorder. The processes of establishment and characteristics of these animal models are described with some interesting information obtained from these animal models. In generalized glycogenosis type II quail, the results of enzyme replacement therapy and gene therapy are described.  (+info)

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. (7/129)

BACKGROUND: Mutations in the gamma2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy characterized by ventricular hypertrophy and electrophysiological abnormalities: Wolff-Parkinson-White syndrome (WPW) and progressive degenerative conduction system disease. Pathological examinations of affected human hearts reveal vacuoles containing amylopectin, a glycogen-related substance. METHODS AND RESULTS: To elucidate the mechanism by which PRKAG2 mutations produce hypertrophy with electrophysiological abnormalities, we constructed transgenic mice overexpressing the PRKAG2 cDNA with or without a missense N488I human mutation. Transgenic mutant mice showed elevated AMP-activated protein kinase activity, accumulated large amounts of cardiac glycogen (30-fold above normal), developed dramatic left ventricular hypertrophy, and exhibited ventricular preexcitation and sinus node dysfunction. Electrophysiological testing demonstrated alternative atrioventricular conduction pathways consistent with WPW. Cardiac histopathology revealed that the annulus fibrosis, which normally insulates the ventricles from inappropriate excitation by the atria, was disrupted by glycogen-filled myocytes. These anomalous microscopic atrioventricular connections, rather than morphologically distinct bypass tracts, appeared to provide the anatomic substrate for ventricular preexcitation. CONCLUSIONS: Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases.  (+info)

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (8/129)

Muscle-specific deficiency of phosphorylase kinase (Phk) causes glycogen storage disease, clinically manifesting in exercise intolerance with early fatiguability, pain, cramps and occasionally myoglobinuria. In two patients and in a mouse mutant with muscle Phk deficiency, mutations were previously found in the muscle isoform of the Phk alpha subunit, encoded by the X-chromosomal PHKA1 gene (MIM # 311870). No mutations have been identified in the muscle isoform of the Phk gamma subunit (PHKG1). In the present study, we determined Q1the structure of the PHKG1 gene and characterized its relationship to several pseudogenes. In six patients with adult- or juvenile-onset muscle glycogenosis and low Phk activity, we then searched for mutations in eight candidate genes. The coding sequences of all six genes that contribute to Phk in muscle were analysed: PHKA1, PHKB, PHKG1, CALM1, CALM2 and CALM3. We also analysed the genes of the muscle isoform of glycogen phosphorylase (PYGM), of a muscle-specific regulatory subunit of the AMP-dependent protein kinase (PRKAG3), and the promoter regions of PHKA1, PHKB and PHKG1. Only in one male patient did we find a PHKA1 missense mutation (D299V) that explains the enzyme deficiency. Two patients were heterozygous for single amino-acid replacements in PHKB that are of unclear significance (Q657K and Y770C). No sequence abnormalities were found in the other three patients. If these results can be generalized, only a fraction of cases with muscle glycogenosis and a biochemical diagnosis of low Phk activity are caused by coding, splice-site or promoter mutations in PHKA1, PHKG1 or other Phk subunit genes. Most patients with this diagnosis probably are affected either by elusive mutations of Phk subunit genes or by defects in other, unidentified genes.  (+info)

Glycogen Storage Disease Type I (GSD I) is a rare inherited metabolic disorder caused by deficiency of the enzyme glucose-6-phosphatase, which is necessary for the liver to release glucose into the bloodstream. This leads to an accumulation of glycogen in the liver and abnormally low levels of glucose in the blood (hypoglycemia).

There are two main subtypes of GSD I: Type Ia and Type Ib. In Type Ia, there is a deficiency of both glucose-6-phosphatase enzyme activity in the liver, kidney, and intestine, leading to hepatomegaly (enlarged liver), hypoglycemia, lactic acidosis, hyperlipidemia, and growth retardation. Type Ib is characterized by a deficiency of glucose-6-phosphatase enzyme activity only in the neutrophils, leading to recurrent bacterial infections.

GSD I requires lifelong management with frequent feedings, high-carbohydrate diet, and avoidance of fasting to prevent hypoglycemia. In some cases, treatment with continuous cornstarch infusions or liver transplantation may be necessary.

Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders that affect the body's ability to break down and store glycogen, a complex carbohydrate that serves as the primary form of energy storage in the body. These diseases are caused by deficiencies or dysfunction in enzymes involved in the synthesis, degradation, or transport of glycogen within cells.

There are several types of GSDs, each with distinct clinical presentations and affected organs. The most common type is von Gierke disease (GSD I), which primarily affects the liver and kidneys. Other types include Pompe disease (GSD II), McArdle disease (GSD V), Cori disease (GSD III), Andersen disease (GSD IV), and others.

Symptoms of GSDs can vary widely depending on the specific type, but may include:

* Hypoglycemia (low blood sugar)
* Growth retardation
* Hepatomegaly (enlarged liver)
* Muscle weakness and cramping
* Cardiomyopathy (heart muscle disease)
* Respiratory distress
* Developmental delays

Treatment for GSDs typically involves dietary management, such as frequent feedings or a high-protein, low-carbohydrate diet. In some cases, enzyme replacement therapy may be used to manage symptoms. The prognosis for individuals with GSDs depends on the specific type and severity of the disorder.

Glycogen Storage Disease Type III, also known as Cori or Forbes disease, is a rare inherited metabolic disorder caused by deficiency of the debranching enzyme amylo-1,6-glucosidase, which is responsible for breaking down glycogen in the liver and muscles. This results in an abnormal accumulation of glycogen in these organs leading to its associated symptoms.

There are two main types: Type IIIa affects both the liver and muscles, while Type IIIb affects only the liver. Symptoms can include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), hyperlipidemia (high levels of fats in the blood), and growth retardation. In Type IIIa, muscle weakness and cardiac problems may also occur.

The diagnosis is usually made through biochemical tests and genetic analysis. Treatment often involves dietary management with frequent meals to prevent hypoglycemia, and in some cases, enzyme replacement therapy. However, there is no cure for this condition and life expectancy can be reduced depending on the severity of the symptoms.

Glycogen Storage Disease Type IV (GSD IV), also known as Andersen's disease, is a rare inherited metabolic disorder that affects the body's ability to break down glycogen, a complex carbohydrate that serves as a source of energy for the body.

In GSD IV, there is a deficiency in the enzyme called glycogen branching enzyme (GBE), which is responsible for adding branches to the glycogen molecule during its synthesis. This results in an abnormal form of glycogen that accumulates in various organs and tissues, particularly in the liver, heart, and muscles.

The accumulation of this abnormal glycogen can lead to progressive damage and failure of these organs, resulting in a variety of symptoms such as muscle weakness, hypotonia, hepatomegaly (enlarged liver), cardiomyopathy (heart muscle disease), and developmental delay. The severity of the disease can vary widely, with some individuals experiencing milder symptoms while others may have a more severe and rapidly progressing form of the disorder.

Currently, there is no cure for GSD IV, and treatment is focused on managing the symptoms and slowing down the progression of the disease. This may include providing nutritional support, addressing specific organ dysfunction, and preventing complications.

Glycogen Storage Disease Type II, also known as Pompe Disease, is a genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a complex sugar that serves as energy storage, within lysosomes. When GAA is deficient, glycogen accumulates in various tissues, particularly in muscle cells, leading to their dysfunction and damage.

The severity of Pompe Disease can vary significantly, depending on the amount of functional enzyme activity remaining. The classic infantile-onset form presents within the first few months of life with severe muscle weakness, hypotonia, feeding difficulties, and respiratory insufficiency. This form is often fatal by 1-2 years of age if left untreated.

A later-onset form, which can present in childhood, adolescence, or adulthood, has a more variable clinical course. Affected individuals may experience progressive muscle weakness, respiratory insufficiency, and cardiomyopathy, although the severity and rate of progression are generally less pronounced than in the infantile-onset form.

Enzyme replacement therapy with recombinant human GAA is available for the treatment of Pompe Disease and has been shown to improve survival and motor function in affected individuals.

Glycogen is a complex carbohydrate that serves as the primary form of energy storage in animals, fungi, and bacteria. It is a polysaccharide consisting of long, branched chains of glucose molecules linked together by glycosidic bonds. Glycogen is stored primarily in the liver and muscles, where it can be quickly broken down to release glucose into the bloodstream during periods of fasting or increased metabolic demand.

In the liver, glycogen plays a crucial role in maintaining blood glucose levels by releasing glucose when needed, such as between meals or during exercise. In muscles, glycogen serves as an immediate energy source for muscle contractions during intense physical activity. The ability to store and mobilize glycogen is essential for the proper functioning of various physiological processes, including athletic performance, glucose homeostasis, and overall metabolic health.

Glycogen Storage Disease Type VII, also known as Tarui's disease, is a rare inherited metabolic disorder caused by a deficiency of the enzyme phosphofructokinase (PFK), which is required for glycogenolysis – the breakdown of glycogen to glucose-1-phosphate and ultimately into glucose. This enzyme deficiency results in the accumulation of glycogen, particularly in muscle and red blood cells, leading to symptoms such as exercise-induced muscle cramps, myoglobinuria (the presence of myoglobin in the urine), and hemolytic anemia. The disease can also cause muscle weakness, fatigue, and dark-colored urine after strenuous exercise. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Glucose-6-phosphatase is an enzyme that plays a crucial role in the regulation of glucose metabolism. It is primarily located in the endoplasmic reticulum of cells in liver, kidney, and intestinal mucosa. The main function of this enzyme is to remove the phosphate group from glucose-6-phosphate (G6P), converting it into free glucose, which can then be released into the bloodstream and used as a source of energy by cells throughout the body.

The reaction catalyzed by glucose-6-phosphatase is as follows:

Glucose-6-phosphate + H2O → Glucose + Pi (inorganic phosphate)

This enzyme is essential for maintaining normal blood glucose levels, particularly during periods of fasting or starvation. In these situations, the body needs to break down stored glycogen in the liver and convert it into glucose to supply energy to the brain and other vital organs. Glucose-6-phosphatase is a key enzyme in this process, allowing for the release of free glucose into the bloodstream.

Deficiencies or mutations in the gene encoding glucose-6-phosphatase can lead to several metabolic disorders, such as glycogen storage disease type I (von Gierke's disease) and other related conditions. These disorders are characterized by an accumulation of glycogen and/or fat in various organs, leading to impaired glucose metabolism, growth retardation, and increased risk of infection and liver dysfunction.

Glycogen Storage Disease Type V, also known as McArdle's disease, is a genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in muscles, into glucose, which provides energy for muscle contraction.

This condition results from a deficiency of the enzyme myophosphorylase, which is responsible for breaking down glycogen into glucose-1-phosphate within the muscle fibers. Without sufficient myophosphorylase activity, muscles become easily fatigued and may cramp or become rigid during exercise due to a lack of available energy.

Symptoms typically appear in childhood or adolescence and can include muscle weakness, stiffness, cramps, and myoglobinuria (the presence of myoglobin, a protein found in muscle cells, in the urine) following exercise. Diagnosis is usually confirmed through genetic testing and enzyme assays. Treatment typically involves avoiding strenuous exercise and ensuring adequate hydration and rest before and after physical activity. In some cases, dietary modifications such as high-protein or high-carbohydrate intake may be recommended to help manage symptoms.

The Glycogen Debranching Enzyme System, also known as glycogen debranching enzyme or Amy-1, is a crucial enzyme complex in human biochemistry. It plays an essential role in the metabolism of glycogen, which is a large, branched polymer of glucose that serves as the primary form of energy storage in animals and fungi.

The Glycogen Debranching Enzyme System consists of two enzymatic activities: a transferase and an exo-glucosidase. The transferase activity transfers a segment of a branched glucose chain to another part of the same or another glycogen molecule, while the exo-glucosidase activity cleaves the remaining single glucose units from the outer branches of the glycogen molecule.

This enzyme system is responsible for removing the branched structures of glycogen, allowing the linear chains to be further degraded by other enzymes into glucose molecules that can be used for energy production or stored for later use. Defects in this enzyme complex can lead to several genetic disorders, such as Glycogen Storage Disease Type III (Cori's disease) and Type IV (Andersen's disease), which are characterized by the accumulation of abnormal glycogen molecules in various tissues.

Glycogen Storage Disease Type VI, also known as Hers disease, is a rare inherited metabolic disorder caused by deficiency of the liver enzyme called glycogen phosphorylase. This enzyme is responsible for breaking down glycogen, which is a stored form of glucose, into glucose-1-phosphate during the process of glycogenolysis.

In GSD Type VI, the lack of this enzyme leads to an abnormal accumulation of glycogen in the liver, causing hepatomegaly (enlarged liver) and elevated liver enzymes. The symptoms of this condition are usually milder compared to other types of GSD, and may include fatigue, weakness, and hypoglycemia (low blood sugar), especially after prolonged fasting or physical exertion.

The diagnosis of GSD Type VI is typically made through biochemical tests that measure the activity of the glycogen phosphorylase enzyme in liver tissue, as well as genetic testing to identify mutations in the gene responsible for the enzyme's production. Treatment may involve dietary management, such as frequent feeding and avoidance of prolonged fasting, to prevent hypoglycemia. In some cases, medication may be necessary to manage symptoms and prevent complications.

Alpha-glucosidases are a group of enzymes that break down complex carbohydrates into simpler sugars, such as glucose, by hydrolyzing the alpha-1,4 and alpha-1,6 glycosidic bonds in oligosaccharides, disaccharides, and polysaccharides. These enzymes are located on the brush border of the small intestine and play a crucial role in carbohydrate digestion and absorption.

Inhibitors of alpha-glucosidases, such as acarbose and miglitol, are used in the treatment of type 2 diabetes to slow down the digestion and absorption of carbohydrates, which helps to reduce postprandial glucose levels and improve glycemic control.

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Lysosomes are membrane-bound organelles within cells that contain enzymes responsible for breaking down and recycling various biomolecules, such as proteins, lipids, and carbohydrates. In LSDs, the absence or deficiency of specific lysosomal enzymes leads to the accumulation of undigested substrates within the lysosomes, resulting in cellular dysfunction and organ damage.

These disorders can affect various organs and systems in the body, including the brain, nervous system, bones, skin, and visceral organs. Symptoms may include developmental delays, neurological impairment, motor dysfunction, bone abnormalities, coarse facial features, hepatosplenomegaly (enlarged liver and spleen), and recurrent infections.

Examples of LSDs include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, Pompe disease, and mucopolysaccharidoses (MPS). Treatment options for LSDs may include enzyme replacement therapy, substrate reduction therapy, or bone marrow transplantation. Early diagnosis and intervention can help improve the prognosis and quality of life for affected individuals.

Liver glycogen is the reserve form of glucose stored in hepatocytes (liver cells) for the maintenance of normal blood sugar levels. It is a polysaccharide, a complex carbohydrate, that is broken down into glucose molecules when blood glucose levels are low. This process helps to maintain the body's energy needs between meals and during periods of fasting or exercise. The amount of glycogen stored in the liver can vary depending on factors such as meal consumption, activity level, and insulin regulation.

Glycogen synthase is an enzyme (EC 2.4.1.11) that plays a crucial role in the synthesis of glycogen, a polysaccharide that serves as the primary storage form of glucose in animals, fungi, and bacteria. This enzyme catalyzes the transfer of glucosyl residues from uridine diphosphate glucose (UDP-glucose) to the non-reducing end of an growing glycogen chain, thereby elongating it.

Glycogen synthase is regulated by several mechanisms, including allosteric regulation and covalent modification. The activity of this enzyme is inhibited by high levels of intracellular glucose-6-phosphate (G6P) and activated by the binding of glycogen or proteins that bind to glycogen, such as glycogenin. Phosphorylation of glycogen synthase by protein kinases, like glycogen synthase kinase-3 (GSK3), also reduces its activity, while dephosphorylation by protein phosphatases enhances it.

The regulation of glycogen synthase is critical for maintaining glucose homeostasis and energy balance in the body. Dysregulation of this enzyme has been implicated in several metabolic disorders, including type 2 diabetes and non-alcoholic fatty liver disease (NAFLD).

Glycogen Storage Disease Type VIII, also known as Phosphorylase Kinase Deficiency, is a rare genetic metabolic disorder that affects the production and breakdown of glycogen in the body. Glycogen is a complex carbohydrate that serves as the primary form of energy storage in the body.

In this condition, there is a deficiency or dysfunction of the enzyme phosphorylase kinase (PhK), which plays a crucial role in activating glycogen phosphorylase, an enzyme responsible for breaking down glycogen into glucose-1-phosphate during periods of increased energy demand.

The deficiency or dysfunction of PhK leads to the abnormal accumulation of glycogen in various tissues, particularly in the liver and muscles. This accumulation can result in hepatomegaly (enlarged liver), hypoglycemia (low blood sugar levels), growth retardation, and muscle weakness.

Glycogen Storage Disease Type VIII is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene, one from each parent, to develop the condition. There are four subtypes of GSD Type VIII, classified based on the specific genetic mutation and the severity of symptoms.

Treatment for Glycogen Storage Disease Type VIII typically involves managing the symptoms and complications associated with the disorder, such as providing a high-carbohydrate diet to prevent hypoglycemia and addressing any liver or muscle dysfunction. Regular monitoring by a healthcare team experienced in metabolic disorders is essential for optimizing treatment and ensuring appropriate management of this complex condition.

Glucan 1,4-alpha-glucosidase, also known as amyloglucosidase or glucoamylase, is an enzyme that catalyzes the hydrolysis of 1,4-glycosidic bonds in starch and other oligo- and polysaccharides, breaking them down into individual glucose molecules. This enzyme specifically acts on the alpha (1->4) linkages found in amylose and amylopectin, two major components of starch. It is widely used in various industrial applications, including the production of high fructose corn syrup, alcoholic beverages, and as a digestive aid in some medical supplements.

Glucose-6-phosphate (G6P) is a vital intermediate compound in the metabolism of glucose, which is a simple sugar that serves as a primary source of energy for living organisms. G6P plays a critical role in both glycolysis and gluconeogenesis pathways, contributing to the regulation of blood glucose levels and energy production within cells.

In biochemistry, glucose-6-phosphate is defined as:

A hexose sugar phosphate ester formed by the phosphorylation of glucose at the 6th carbon atom by ATP in a reaction catalyzed by the enzyme hexokinase or glucokinase. This reaction is the first step in both glycolysis and glucose storage (glycogen synthesis) processes, ensuring that glucose can be effectively utilized for energy production or stored for later use.

G6P serves as a crucial metabolic branch point, leading to various pathways such as:

1. Glycolysis: In the presence of sufficient ATP and NAD+ levels, G6P is further metabolized through glycolysis to generate pyruvate, which enters the citric acid cycle for additional energy production in the form of ATP, NADH, and FADH2.
2. Gluconeogenesis: During periods of low blood glucose levels, G6P can be synthesized back into glucose through the gluconeogenesis pathway, primarily occurring in the liver and kidneys. This process helps maintain stable blood glucose concentrations and provides energy to cells when dietary intake is insufficient.
3. Pentose phosphate pathway (PPP): A portion of G6P can be shunted into the PPP, an alternative metabolic route that generates NADPH, ribose-5-phosphate for nucleotide synthesis, and erythrose-4-phosphate for aromatic amino acid production. The PPP is essential in maintaining redox balance within cells and supporting biosynthetic processes.

Overall, glucose-6-phosphate plays a critical role as a central metabolic intermediate, connecting various pathways to regulate energy homeostasis, redox balance, and biosynthesis in response to cellular demands and environmental cues.

Antiporters, also known as exchange transporters, are a type of membrane transport protein that facilitate the exchange of two or more ions or molecules across a biological membrane in opposite directions. They allow for the movement of one type of ion or molecule into a cell while simultaneously moving another type out of the cell. This process is driven by the concentration gradient of one or both of the substances being transported. Antiporters play important roles in various physiological processes, including maintaining electrochemical balance and regulating pH levels within cells.

A liver cell adenoma is a benign tumor that develops in the liver and is composed of cells similar to those normally found in the liver (hepatocytes). These tumors are usually solitary, but multiple adenomas can occur, especially in women who have taken oral contraceptives for many years. Liver cell adenomas are typically asymptomatic and are often discovered incidentally during imaging studies performed for other reasons. In rare cases, they may cause symptoms such as abdominal pain or discomfort, or complications such as bleeding or rupture. Treatment options include monitoring with periodic imaging studies or surgical removal of the tumor.

Amylopectin is a type of complex carbohydrate molecule known as a polysaccharide. It is a component of starch, which is found in plants and is a major source of energy for both humans and other animals. Amylopectin is made up of long chains of glucose molecules that are branched together in a bush-like structure.

Amylopectin is composed of two types of glucose chain branches: outer chains, which are made up of shorter, highly branched chains of glucose molecules; and inner chains, which are made up of longer, less branched chains. The branching pattern of amylopectin allows it to be digested and absorbed more slowly than other types of carbohydrates, such as simple sugars. This slower digestion and absorption can help to regulate blood sugar levels and provide sustained energy.

Amylopectin is found in a variety of plant-based foods, including grains, legumes, vegetables, and fruits. It is an important source of calories and energy for humans and other animals that consume these types of plants as part of their diet.

1,4-Alpha-Glucan Branching Enzyme (GBE) is an enzyme that plays a crucial role in the synthesis of glycogen, a complex carbohydrate that serves as the primary form of energy storage in animals and fungi. GBE catalyzes the transfer of a segment of a linear glucose chain (alpha-1,4 linkage) to an alpha-1,6 position on another chain, creating branches in the glucan molecule. This branching process enhances the solubility and compactness of glycogen, allowing it to be stored more efficiently within cells.

Defects in GBE are associated with a group of genetic disorders known as glycogen storage diseases type IV (GSD IV), also called Andersen's disease. This autosomal recessive disorder is characterized by the accumulation of abnormally structured glycogen in various tissues, particularly in the liver and muscles, leading to progressive liver failure, muscle weakness, cardiac complications, and sometimes neurological symptoms.

Enterocolitis is a medical condition that involves inflammation of the small intestine (enteritis) and large intestine (colitis). This condition can affect people of all ages, but it is most commonly seen in infants and young children. The symptoms of enterocolitis may include diarrhea, abdominal cramps, bloating, nausea, vomiting, fever, and dehydration.

There are several types of enterocolitis, including:

1. Infectious Enterocolitis: This type is caused by a bacterial, viral, or parasitic infection in the intestines. Common causes include Salmonella, Shigella, Escherichia coli (E. coli), and norovirus.
2. Antibiotic-Associated Enterocolitis: This type is caused by an overgrowth of harmful bacteria in the intestines following the use of antibiotics that kill off beneficial gut bacteria.
3. Pseudomembranous Enterocolitis: This is a severe form of antibiotic-associated enterocolitis caused by the bacterium Clostridioides difficile (C. diff).
4. Necrotizing Enterocolitis: This is a serious condition that primarily affects premature infants, causing inflammation and damage to the intestinal tissue, which can lead to perforations and sepsis.
5. Ischemic Enterocolitis: This type is caused by reduced blood flow to the intestines, often due to conditions such as mesenteric ischemia or vasculitis.
6. Radiation Enterocolitis: This type occurs as a complication of radiation therapy for cancer treatment, which can damage the intestinal lining and lead to inflammation.
7. Eosinophilic Enterocolitis: This is a rare condition characterized by an excessive buildup of eosinophils (a type of white blood cell) in the intestinal tissue, leading to inflammation and symptoms similar to those seen in inflammatory bowel disease.

Treatment for enterocolitis depends on the underlying cause and severity of the condition. It may include antibiotics, antiparasitic medications, probiotics, or surgery in severe cases.

Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues and organs, particularly in the liver and spleen. It is caused by mutations in the gene responsible for producing lipoprotein lipase (LPL), an enzyme that helps break down fats called triglycerides in the body.

In CESD, the lack of functional LPL leads to an accumulation of cholesteryl esters in the lysosomes of cells, which can cause damage and inflammation in affected organs. Symptoms of CESD can vary widely, but often include enlargement of the liver and spleen, abdominal pain, jaundice, and fatty deposits under the skin (xanthomas).

CESD is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may involve dietary modifications to reduce the intake of fats, medications to help control lipid levels in the blood, and in some cases, liver transplantation.

Hepatomegaly is a medical term that refers to an enlargement of the liver beyond its normal size. The liver is usually located in the upper right quadrant of the abdomen and can be felt during a physical examination. A healthcare provider may detect hepatomegaly by palpating (examining through touch) the abdomen, noticing that the edge of the liver extends past the lower ribcage.

There are several possible causes for hepatomegaly, including:
- Fatty liver disease (both alcoholic and nonalcoholic)
- Hepatitis (viral or autoimmune)
- Liver cirrhosis
- Cancer (such as primary liver cancer, metastatic cancer, or lymphoma)
- Infections (e.g., bacterial, fungal, or parasitic)
- Heart failure and other cardiovascular conditions
- Genetic disorders (e.g., Gaucher's disease, Niemann-Pick disease, or Hunter syndrome)
- Metabolic disorders (e.g., glycogen storage diseases, hemochromatosis, or Wilson's disease)

Diagnosing the underlying cause of hepatomegaly typically involves a combination of medical history, physical examination, laboratory tests, and imaging studies like ultrasound, CT scan, or MRI. Treatment depends on the specific cause identified and may include medications, lifestyle changes, or, in some cases, surgical intervention.

Glycogen phosphorylase is an enzyme that plays a crucial role in the breakdown of glycogen, a stored form of glucose, to provide energy for the body's needs. This enzyme is primarily located in the liver and muscles.

In the process of glycogenolysis, glycogen phosphorylase catalyzes the phosphorolytic cleavage of the α-1,4-glycosidic bonds between glucose units in glycogen, releasing glucose-1-phosphate. This reaction does not involve water, unlike hydrolysis, making it more energy efficient. The glucose-1-phosphate produced can then be further metabolized to yield ATP and other energy-rich compounds through the glycolytic pathway.

Glycogen phosphorylase exists in two interconvertible forms: the active a form and the less active b form. The conversion between these forms is regulated by various factors, including hormones (such as insulin, glucagon, and epinephrine), enzymes, and second messengers (like cyclic AMP). Phosphorylation and dephosphorylation of the enzyme are critical in this regulation process. When glycogen phosphorylase is phosphorylated, it becomes activated, leading to increased glycogen breakdown; when it's dephosphorylated, it becomes less active or inactive, slowing down glycogenolysis.

Understanding the function and regulation of glycogen phosphorylase is essential for comprehending energy metabolism, particularly during periods of fasting, exercise, and stress when glucose availability from glycogen stores becomes crucial.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

Glycogen Storage Disease Type IIb, also known as Pompe Disease, is a genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a complex carbohydrate, into glucose within lysosomes. When GAA activity is lacking, glycogen accumulates in various tissues, including muscle and nerve cells, leading to cellular dysfunction and damage.

Type IIb Pompe Disease is characterized by progressive muscle weakness and hypertrophy (enlargement) of the heart muscle (cardiomyopathy). This form of the disease typically presents in infancy or early childhood and can progress rapidly, often resulting in severe cardiac complications and respiratory failure if left untreated.

Early diagnosis and treatment with enzyme replacement therapy (ERT) can significantly improve outcomes for individuals with Type IIb Pompe Disease. ERT involves administering recombinant human GAA to replace the deficient enzyme, helping to reduce glycogen accumulation in tissues and alleviate symptoms.

Monosaccharide transport proteins are a type of membrane transport protein that facilitate the passive or active transport of monosaccharides, such as glucose, fructose, and galactose, across cell membranes. These proteins play a crucial role in the absorption, distribution, and metabolism of carbohydrates in the body.

There are two main types of monosaccharide transport proteins: facilitated diffusion transporters and active transporters. Facilitated diffusion transporters, also known as glucose transporters (GLUTs), passively transport monosaccharides down their concentration gradient without the need for energy. In contrast, active transporters, such as the sodium-glucose cotransporter (SGLT), use energy in the form of ATP to actively transport monosaccharides against their concentration gradient.

Monosaccharide transport proteins are found in various tissues throughout the body, including the intestines, kidneys, liver, and brain. They play a critical role in maintaining glucose homeostasis by regulating the uptake and release of glucose into and out of cells. Dysfunction of these transporters has been implicated in several diseases, such as diabetes, cancer, and neurological disorders.

Hypoglycemia is a medical condition characterized by an abnormally low level of glucose (sugar) in the blood. Generally, hypoglycemia is defined as a blood glucose level below 70 mg/dL (3.9 mmol/L), although symptoms may not occur until the blood sugar level falls below 55 mg/dL (3.0 mmol/L).

Hypoglycemia can occur in people with diabetes who are taking insulin or medications that increase insulin production, as well as those with certain medical conditions such as hormone deficiencies, severe liver illnesses, or disorders of the adrenal glands. Symptoms of hypoglycemia include sweating, shaking, confusion, rapid heartbeat, and in severe cases, loss of consciousness or seizures.

Hypoglycemia is typically treated by consuming fast-acting carbohydrates such as fruit juice, candy, or glucose tablets to rapidly raise blood sugar levels. If left untreated, hypoglycemia can lead to serious complications, including brain damage and even death.

Fructose-1,6-diphosphatase deficiency is a rare inherited metabolic disorder that affects the body's ability to metabolize carbohydrates, particularly fructose and glucose. This enzyme deficiency results in an accumulation of certain metabolic intermediates, which can cause a variety of symptoms, including hypoglycemia (low blood sugar), lactic acidosis, hyperventilation, and seizures. The condition is typically diagnosed in infancy or early childhood and is treated with a diet low in fructose and other sugars that can't be metabolized properly due to the enzyme deficiency. If left untreated, the disorder can lead to serious complications, such as brain damage and death.

Glycogen Synthase Kinase 3 (GSK-3) is a serine/threonine protein kinase that plays a crucial role in the regulation of several cellular processes, including glycogen metabolism, cell signaling, gene transcription, and apoptosis. It was initially discovered as a key enzyme involved in glycogen metabolism due to its ability to phosphorylate and inhibit glycogen synthase, an enzyme responsible for the synthesis of glycogen from glucose.

GSK-3 exists in two isoforms, GSK-3α and GSK-3β, which share a high degree of sequence similarity and are widely expressed in various tissues. Both isoforms are constitutively active under normal conditions and are regulated through inhibitory phosphorylation by several upstream signaling pathways, such as insulin, Wnt, and Hedgehog signaling.

Dysregulation of GSK-3 has been implicated in the pathogenesis of various diseases, including diabetes, neurodegenerative disorders, and cancer. In recent years, GSK-3 has emerged as an attractive therapeutic target for the development of novel drugs to treat these conditions.

Phosphorylase b is a form of the enzyme glycogen phosphorylase, which is involved in the breakdown of glycogen, a large polymer of glucose, to glucose-1-phosphate. This enzyme plays a crucial role in carbohydrate metabolism, particularly during muscle contraction and liver glycogenolysis (the process of breaking down glycogen in the liver to release glucose into the bloodstream).

Phosphorylase b is an inactive form of the enzyme that can be converted to its active form, phosphorylase a, through the addition of a phosphate group by another enzyme called phosphorylase kinase. This conversion is part of a signaling cascade that activates glycogen breakdown in response to hormonal signals (such as epinephrine or glucagon) and metabolic demands (like muscle contraction).

The interconversion between phosphorylase b and phosphorylase a is an essential mechanism for regulating glycogen metabolism, allowing the body to rapidly respond to changing energy needs.

I'm happy to help! However, it seems there might be a bit of confusion here. Starch is not typically considered a medical term, but rather a nutritional and biochemical concept. Here's a brief explanation:

Starch is a complex carbohydrate that serves as the primary form of energy storage in plants. It is made up of long chains of glucose molecules and can be found in various foods such as grains, legumes, fruits, and vegetables. Amylase, an enzyme present in our saliva and digestive system, helps break down starch into simpler sugars during the digestion process so that our bodies can absorb them for energy.

I hope this clarifies any confusion! If you have any other questions or need further information on a medical topic, please don't hesitate to ask.

Phosphorylases are enzymes that catalyze the phosphorolytic cleavage of a bond, often a glycosidic bond, in a carbohydrate molecule, releasing a sugar moiety and a phosphate group. This reaction is important in metabolic pathways such as glycogenolysis, where glycogen is broken down into glucose-1-phosphate by the action of glycogen phosphorylase. The resulting glucose-1-phosphate can then be further metabolized to produce energy. Phosphorylases are widely found in nature and play a crucial role in various biological processes, including energy metabolism and signal transduction.

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. These diseases affect many different organ systems, including the nervous system. Lysosomes are membrane-bound organelles found inside cells that break down and recycle various types of cellular waste materials through the action of enzymes. In LSDs, a genetic mutation leads to a deficiency or complete lack of a specific lysosomal enzyme, resulting in the accumulation of undigested substrates within the lysosomes. This accumulation can cause progressive damage to cells and tissues throughout the body, including those in the nervous system.

There are more than 50 different types of LSDs, some of which primarily affect the nervous system:

1. Tay-Sachs disease: A severe neurological disorder caused by a deficiency of the enzyme hexosaminidase A (HEXA). The accumulation of ganglioside GM2 in neurons leads to progressive neurodegeneration, resulting in motor and cognitive decline, blindness, and early death.
2. Sandhoff disease: Similar to Tay-Sachs disease but caused by a deficiency in both HEXA and hexosaminidase B (HEXB) enzymes. This disorder affects multiple organ systems, including the nervous system, with symptoms similar to Tay-Sachs disease but often more severe and rapid progression.
3. GM1 gangliosidosis: A condition caused by a deficiency of the enzyme β-galactosidase (GLB1), leading to the accumulation of GM1 ganglioside in neurons. Symptoms include developmental delay, motor and cognitive decline, seizures, and progressive neurological deterioration.
4. Gaucher disease: A disorder caused by a deficiency of the enzyme glucocerebrosidase (GBA), resulting in the accumulation of glucocerebroside in various tissues, including the nervous system. There are three main types of Gaucher disease, with type 2 and 3 having neurological involvement.
5. Niemann-Pick disease types A and B: These disorders are caused by a deficiency of the enzyme acid sphingomyelinase (SMPD1), leading to the accumulation of sphingomyelin in various tissues, including the nervous system. Type A primarily affects the nervous system, while type B mainly involves visceral organs.
6. Fabry disease: An X-linked disorder caused by a deficiency of the enzyme α-galactosidase A (GLA), resulting in the accumulation of globotriaosylceramide (Gb3) in various tissues, including the nervous system. Symptoms include pain, gastrointestinal issues, skin lesions, and progressive renal, cardiac, and cerebrovascular complications.
7. Metachromatic leukodystrophy: A disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA), leading to the accumulation of sulfatides in the white matter of the brain. Symptoms include motor and cognitive decline, seizures, and progressive neurological deterioration.
8. Krabbe disease: An autosomal recessive disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), resulting in the accumulation of psychosine in the nervous system. Symptoms include motor and cognitive decline, seizures, and progressive neurological deterioration.
9. Mucopolysaccharidoses: A group of disorders caused by deficiencies of various enzymes involved in the breakdown of glycosaminoglycans (GAGs), leading to their accumulation in tissues throughout the body, including the nervous system. Symptoms vary depending on the specific disorder and include skeletal abnormalities, cardiac complications, vision and hearing loss, and progressive neurological decline.
10. Neuronal ceroid lipofuscinoses: A group of neurodegenerative disorders caused by mutations in various genes involved in lysosomal function, leading to the accumulation of lipopigments in neurons and other cells. Symptoms include seizures, motor and cognitive decline, vision loss, and progressive neurological deterioration.
11. Peroxisomal biogenesis disorders: A group of disorders caused by mutations in genes involved in peroxisome biogenesis, leading to the accumulation of very long-chain fatty acids, phytanic acid, and pipecolic acid in tissues throughout the body, including the nervous system. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
12. Congenital disorders of glycosylation: A group of disorders caused by mutations in genes involved in N-glycosylation, leading to abnormal protein folding, trafficking, and function. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
13. Leukodystrophies: A group of disorders characterized by abnormalities in the white matter of the brain due to defects in myelin formation or maintenance. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
14. Mitochondrial disorders: A group of disorders caused by mutations in genes involved in mitochondrial function, leading to energy production deficits and oxidative stress. Symptoms vary depending on the specific disorder and include developmental delay, hypotonia, seizures, vision loss, hearing impairment, and progressive neurological decline.
15. Neurodegenerative disorders: A group of disorders characterized by progressive degeneration of the nervous system, leading to cognitive decline, motor dysfunction, and ultimately death. Examples include Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS).
16. Neurodevelopmental disorders: A group of disorders characterized by impairments in cognitive, social, and motor development, including autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), intellectual disability, and specific learning disorders.
17. Epilepsy: A group of disorders characterized by recurrent seizures due to abnormal electrical activity in the brain. Epilepsy can be caused by various genetic and environmental factors, including structural brain abnormalities, infections, trauma, and metabolic imbalances.
18. Neuroinflammatory disorders: A group of disorders characterized by inflammation of the nervous system, leading to damage and dysfunction. Examples include multiple sclerosis, neuromyelitis optica, and autoimmune encephalitis.
19. Infectious diseases of the nervous system: A group of disorders caused by infectious agents such as viruses, bacteria, fungi, or parasites that affect the nervous system. Examples include meningitis, encephalitis, and HIV-associated neurological disorders.
20. Neurotoxic disorders: A group of disorders caused by exposure to neurotoxic substances such as heavy metals, pesticides, solvents, or drugs that damage the nervous system. Examples include lead poisoning, organophosphate poisoning, and methanol toxicity.
21. Neurooncological disorders: A group of disorders characterized by tumors of the nervous system, including primary brain tumors, metastatic brain tumors, and spinal cord tumors.
22. Vascular disorders of the nervous system: A group of disorders caused by disruption of blood flow to the nervous system, leading to ischemia or hemorrhage. Examples include stroke, transient ischemic attack, and subarachnoid hemorrhage.
23. Degenerative disorders of the nervous system: A group of disorders characterized by progressive degeneration of nerve cells and their supporting structures, leading to functional impairment. Examples include Alzheimer's disease, Parkinson's disease, and Huntington's disease.
24. Neurodevelopmental disorders: A group of disorders that affect the development of the nervous system, leading to cognitive, behavioral, or motor impairments. Examples include autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability.
25. Epilepsy and seizure disorders: A group of disorders characterized by recurrent seizures, which are abnormal electrical discharges in the brain that can cause a variety of symptoms such as convulsions, altered consciousness, or sensory disturbances.
26. Neurogenetic disorders: A group of disorders caused by genetic mutations that affect the structure or function of the nervous system. Examples include fragile X syndrome, tuberous sclerosis complex, and neurofibromatosis type 1.
27. Neuromuscular

Lactic acid, also known as 2-hydroxypropanoic acid, is a chemical compound that plays a significant role in various biological processes. In the context of medicine and biochemistry, lactic acid is primarily discussed in relation to muscle metabolism and cellular energy production. Here's a medical definition for lactic acid:

Lactic acid (LA): A carboxylic acid with the molecular formula C3H6O3 that plays a crucial role in anaerobic respiration, particularly during strenuous exercise or conditions of reduced oxygen availability. It is formed through the conversion of pyruvate, catalyzed by the enzyme lactate dehydrogenase (LDH), when there is insufficient oxygen to complete the final step of cellular respiration in the Krebs cycle. The accumulation of lactic acid can lead to acidosis and muscle fatigue. Additionally, lactic acid serves as a vital intermediary in various metabolic pathways and is involved in the production of glucose through gluconeogenesis in the liver.

Sialic Acid Storage Disease is a rare genetic disorder that affects the metabolism of sialic acids, which are sugars found on the surface of cells. There are two main types: Sialic acid storage disease type I (SASD I), also known as Sialidosis, and Sialic Acid Storage Disease type II (SASD II), also known as galactosialidosis.

In SASD I, there is a deficiency of the enzyme sialidase, which leads to an accumulation of sialic acids in various tissues and organs, including the brain, liver, and eyes. This can result in a range of symptoms, such as coarse facial features, intellectual disability, developmental delay, seizures, cherry-red spots on the retina, and problems with movement and coordination.

In SASD II, there is a deficiency of two enzymes: sialidase and cathepsin A. This results in an accumulation of both sialic acids and glycoproteins in various tissues and organs, leading to symptoms similar to those seen in SASD I, as well as additional features such as hearing loss, heart problems, and weakened bones.

Both forms of Sialic Acid Storage Disease are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and dietary modifications. In some cases, enzyme replacement therapy or bone marrow transplantation may be considered as treatment options.

Glucose is a simple monosaccharide (or single sugar) that serves as the primary source of energy for living organisms. It's a fundamental molecule in biology, often referred to as "dextrose" or "grape sugar." Glucose has the molecular formula C6H12O6 and is vital to the functioning of cells, especially those in the brain and nervous system.

In the body, glucose is derived from the digestion of carbohydrates in food, and it's transported around the body via the bloodstream to cells where it can be used for energy. Cells convert glucose into a usable form through a process called cellular respiration, which involves a series of metabolic reactions that generate adenosine triphosphate (ATP)—the main currency of energy in cells.

Glucose is also stored in the liver and muscles as glycogen, a polysaccharide (multiple sugar) that can be broken down back into glucose when needed for energy between meals or during physical activity. Maintaining appropriate blood glucose levels is crucial for overall health, and imbalances can lead to conditions such as diabetes mellitus.

A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.

Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.

Wolman disease is a rare inherited disorder of lipid metabolism, specifically affecting the enzyme acid lipase that is responsible for breaking down cholesteryl esters and triglycerides in lysosomes. This autosomal recessive condition leads to an accumulation of these fatty substances in various tissues and organs, including the liver, spleen, intestines, adrenal glands, and lymph nodes.

The symptoms of Wolman disease typically appear within the first few months of life and can include vomiting, diarrhea, failure to thrive, abdominal distention, and severe malnutrition. Other features may consist of hepatosplenomegaly (enlarged liver and spleen), calcification of adrenal glands, and progressive deterioration of the nervous system. The disease often results in death within the first two years of life if left untreated.

A related condition called acid lipase deficiency or Cholesteryl Ester Storage Disease (CESD) has a later onset and milder symptoms compared to Wolman disease, as it affects only one form of acid lipase enzyme.

Lactates, also known as lactic acid, are compounds that are produced by muscles during intense exercise or other conditions of low oxygen supply. They are formed from the breakdown of glucose in the absence of adequate oxygen to complete the full process of cellular respiration. This results in the production of lactate and a hydrogen ion, which can lead to a decrease in pH and muscle fatigue.

In a medical context, lactates may be measured in the blood as an indicator of tissue oxygenation and metabolic status. Elevated levels of lactate in the blood, known as lactic acidosis, can indicate poor tissue perfusion or hypoxia, and may be seen in conditions such as sepsis, cardiac arrest, and severe shock. It is important to note that lactates are not the primary cause of acidemia (low pH) in lactic acidosis, but rather a marker of the underlying process.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Alpha-mannosidosis is a rare inherited metabolic disorder caused by the deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugar molecules called mannose-rich oligosaccharides, which are found on the surface of many different types of cells in the body.

When the alpha-mannosidase enzyme is deficient or not working properly, these sugar molecules accumulate inside the lysosomes (the recycling centers of the cell) and cause damage to various tissues and organs, leading to a range of symptoms.

The severity of the disease can vary widely, depending on the amount of functional alpha-mannosidase enzyme activity present in an individual's cells. Three main types of alpha-mannosidosis have been described: mild, moderate, and severe. The severe form is usually diagnosed in infancy or early childhood and is characterized by developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, hearing loss, and recurrent respiratory infections.

The moderate form of the disease may not be diagnosed until later in childhood or even adulthood, and it is generally milder than the severe form. Symptoms can include mild to moderate intellectual disability, skeletal abnormalities, hearing loss, and speech difficulties. The mild form of alpha-mannosidosis may not cause any noticeable symptoms until much later in life, and some individuals with this form of the disease may never experience any significant health problems.

Currently, there is no cure for alpha-mannosidosis, and treatment is focused on managing the symptoms of the disease. Enzyme replacement therapy (ERT) has shown promise in treating some forms of the disorder, but it is not yet widely available. Bone marrow transplantation has also been used to treat alpha-mannosidosis, with varying degrees of success.

Hypoxanthine is a purine derivative and an intermediate in the metabolic pathways of nucleotide degradation, specifically adenosine to uric acid in humans. It is formed from the oxidation of xanthine by the enzyme xanthine oxidase. In the body, hypoxanthine is converted to xanthine and then to uric acid, which is excreted in the urine. Increased levels of hypoxanthine in the body can be indicative of various pathological conditions, including tissue hypoxia, ischemia, and necrosis.

Uric acid is a chemical compound that is formed when the body breaks down purines, which are substances that are found naturally in certain foods such as steak, organ meats and seafood, as well as in our own cells. After purines are broken down, they turn into uric acid and then get excreted from the body in the urine.

However, if there is too much uric acid in the body, it can lead to a condition called hyperuricemia. High levels of uric acid can cause gout, which is a type of arthritis that causes painful swelling and inflammation in the joints, especially in the big toe. Uric acid can also form crystals that can collect in the kidneys and lead to kidney stones.

It's important for individuals with gout or recurrent kidney stones to monitor their uric acid levels and follow a treatment plan prescribed by their healthcare provider, which may include medications to lower uric acid levels and dietary modifications.

Blood glucose, also known as blood sugar, is the concentration of glucose in the blood. Glucose is a simple sugar that serves as the main source of energy for the body's cells. It is carried to each cell through the bloodstream and is absorbed into the cells with the help of insulin, a hormone produced by the pancreas.

The normal range for blood glucose levels in humans is typically between 70 and 130 milligrams per deciliter (mg/dL) when fasting, and less than 180 mg/dL after meals. Levels that are consistently higher than this may indicate diabetes or other metabolic disorders.

Blood glucose levels can be measured through a variety of methods, including fingerstick blood tests, continuous glucose monitoring systems, and laboratory tests. Regular monitoring of blood glucose levels is important for people with diabetes to help manage their condition and prevent complications.

A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.

The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.

Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.

Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.

Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.

Glycogen synthase kinases (GSKs) are a family of enzymes that play a crucial role in the regulation of glycogen metabolism. Glycogen is a complex carbohydrate that serves as a primary energy storage form in animals, fungi, and bacteria.

GSKs function as serine/threonine protein kinases, which means they add phosphate groups to specific serine or threonine residues on their target proteins. In the case of glycogen synthase kinases, their primary target is glycogen synthase, an enzyme responsible for synthesizing glycogen from glucose-1-phosphate during the process of glycogenesis (glycogen synthesis).

There are several isoforms of GSKs identified in humans, including GSK3α and GSK3β. These kinases are involved in various cellular processes, such as:

1. Regulation of glycogen metabolism: By phosphorylating and inhibiting glycogen synthase, GSKs help control the balance between glycogen storage and glucose utilization.
2. Cell signaling pathways: GSKs participate in several intracellular signaling cascades, including the Wnt signaling pathway, insulin signaling pathway, and the PI3K/AKT pathway, which regulate various cellular functions such as proliferation, differentiation, survival, and metabolism.
3. Regulation of gene expression: GSKs can modulate transcription factors' activity, thereby influencing gene expression and contributing to various cellular responses.
4. Neuronal function: In the brain, GSKs are involved in regulating synaptic plasticity, learning, and memory processes.
5. Disease pathogenesis: Dysregulation of GSKs has been implicated in several diseases, such as diabetes, neurodegenerative disorders (e.g., Alzheimer's disease), and cancer.

In summary, glycogen synthase kinases are a family of protein kinases that regulate glycogen metabolism and participate in various cell signaling pathways, influencing numerous cellular functions and being implicated in several diseases.

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in various tissues and organs due to deficiencies in enzymes involved in sphingolipid metabolism. Sphingolipids are a type of lipid molecule that play important roles in cell membranes, signal transduction, and cell recognition.

Examples of sphingolipidoses include Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Krabbe disease, among others. These disorders can affect various organs and systems in the body, including the brain, liver, spleen, bones, and nervous system, leading to a range of symptoms such as developmental delay, seizures, movement disorders, enlarged organs, and skin abnormalities.

Treatment for sphingolipidoses typically involves managing symptoms and addressing complications, although some forms of these disorders may be amenable to enzyme replacement therapy or stem cell transplantation.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Inosine is not a medical condition but a naturally occurring compound called a nucleoside, which is formed from the combination of hypoxanthine and ribose. It is an intermediate in the metabolic pathways of purine nucleotides, which are essential components of DNA and RNA. Inosine has been studied for its potential therapeutic benefits in various medical conditions, including neurodegenerative disorders, cardiovascular diseases, and cancer. However, more research is needed to fully understand its mechanisms and clinical applications.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.

Hypoxanthine is not a medical condition but a purine base that is a component of many organic compounds, including nucleotides and nucleic acids, which are the building blocks of DNA and RNA. In the body, hypoxanthine is produced as a byproduct of normal cellular metabolism and is converted to xanthine and then uric acid, which is excreted in the urine.

However, abnormally high levels of hypoxanthine in the body can indicate tissue damage or disease. For example, during intense exercise or hypoxia (low oxygen levels), cells may break down ATP (adenosine triphosphate) rapidly, releasing large amounts of hypoxanthine. Similarly, in some genetic disorders such as Lesch-Nyhan syndrome, there is an accumulation of hypoxanthine due to a deficiency of the enzyme that converts it to xanthine. High levels of hypoxanthine can lead to the formation of kidney stones and other complications.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

There is no medical definition for "dog diseases" as it is too broad a term. However, dogs can suffer from various health conditions and illnesses that are specific to their species or similar to those found in humans. Some common categories of dog diseases include:

1. Infectious Diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include distemper, parvovirus, kennel cough, Lyme disease, and heartworms.
2. Hereditary/Genetic Disorders: Some dogs may inherit certain genetic disorders from their parents. Examples include hip dysplasia, elbow dysplasia, progressive retinal atrophy (PRA), and degenerative myelopathy.
3. Age-Related Diseases: As dogs age, they become more susceptible to various health issues. Common age-related diseases in dogs include arthritis, dental disease, cancer, and cognitive dysfunction syndrome (CDS).
4. Nutritional Disorders: Malnutrition or improper feeding can lead to various health problems in dogs. Examples include obesity, malnutrition, and vitamin deficiencies.
5. Environmental Diseases: These are caused by exposure to environmental factors such as toxins, allergens, or extreme temperatures. Examples include heatstroke, frostbite, and toxicities from ingesting harmful substances.
6. Neurological Disorders: Dogs can suffer from various neurological conditions that affect their nervous system. Examples include epilepsy, intervertebral disc disease (IVDD), and vestibular disease.
7. Behavioral Disorders: Some dogs may develop behavioral issues due to various factors such as anxiety, fear, or aggression. Examples include separation anxiety, noise phobias, and resource guarding.

It's important to note that regular veterinary care, proper nutrition, exercise, and preventative measures can help reduce the risk of many dog diseases.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Gaucher disease is an inherited metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a complex fatty substance called glucocerebroside, found in the cells of various tissues throughout the body. When the enzyme is not present in sufficient quantities or is entirely absent, glucocerebroside accumulates inside the lysosomes (cellular organelles responsible for waste material breakdown) of certain cell types, particularly within white blood cells called macrophages. This buildup of lipids leads to the formation of characteristic lipid-laden cells known as Gaucher cells.

There are three main types of Gaucher disease, classified based on the absence or presence and severity of neurological symptoms:

1. Type 1 (non-neuronopathic) - This is the most common form of Gaucher disease, accounting for approximately 95% of cases. It primarily affects the spleen, liver, and bone marrow but does not typically involve the central nervous system. Symptoms may include an enlarged spleen and/or liver, low red blood cell counts (anemia), low platelet counts (thrombocytopenia), bone pain and fractures, and fatigue.
2. Type 2 (acute neuronopathic) - This rare and severe form of Gaucher disease affects both visceral organs and the central nervous system. Symptoms usually appear within the first six months of life and progress rapidly, often leading to death before two years of age due to neurological complications.
3. Type 3 (subacute neuronopathic) - This form of Gaucher disease affects both visceral organs and the central nervous system but has a slower progression compared to type 2. Symptoms may include those seen in type 1, as well as neurological issues such as seizures, eye movement abnormalities, and cognitive decline.

Gaucher disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene (one from each parent) to develop the condition. Treatment options for Gaucher disease include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and chaperone therapy, depending on the type and severity of the disease.

Liver neoplasms refer to abnormal growths in the liver that can be benign or malignant. Benign liver neoplasms are non-cancerous tumors that do not spread to other parts of the body, while malignant liver neoplasms are cancerous tumors that can invade and destroy surrounding tissue and spread to other organs.

Liver neoplasms can be primary, meaning they originate in the liver, or secondary, meaning they have metastasized (spread) to the liver from another part of the body. Primary liver neoplasms can be further classified into different types based on their cell of origin and behavior, including hepatocellular carcinoma, cholangiocarcinoma, and hepatic hemangioma.

The diagnosis of liver neoplasms typically involves a combination of imaging studies, such as ultrasound, CT scan, or MRI, and biopsy to confirm the type and stage of the tumor. Treatment options depend on the type and extent of the neoplasm and may include surgery, radiation therapy, chemotherapy, or liver transplantation.

Mucopolysaccharidosis (MPS) VII, also known as Sly syndrome, is a rare genetic disorder caused by the deficiency of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), or mucopolysaccharides, in the body. When this enzyme is not present in sufficient amounts, GAGs accumulate in various tissues and organs, leading to progressive damage.

The symptoms of MPS VII can vary widely, but often include coarse facial features, short stature, skeletal abnormalities, hearing loss, heart problems, and intellectual disability. Some individuals with MPS VII may also have cloudy corneas, enlarged liver and spleen, and difficulty breathing due to airway obstruction. The severity of the condition can range from mild to severe, and life expectancy is often reduced in those with more severe symptoms.

MPS VII is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Treatment for MPS VII typically involves enzyme replacement therapy, which can help to slow down the progression of the disease and improve some symptoms. However, there is currently no cure for this condition.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), also known as mucopolysaccharides, in the body.

When the enzyme is deficient, GAGs accumulate in various tissues and organs, leading to a range of symptoms that can affect different parts of the body, including the skeletal system, heart, respiratory system, eyes, and central nervous system. There are three subtypes of MPS I: Hurler syndrome (the most severe form), Hurler-Scheie syndrome (an intermediate form), and Scheie syndrome (the least severe form).

The symptoms and severity of MPS I can vary widely depending on the specific subtype, with Hurler syndrome typically causing more significant health problems and a shorter life expectancy than the other two forms. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and various supportive therapies to manage symptoms and improve quality of life.

"Drug storage" refers to the proper handling, maintenance, and preservation of medications in a safe and suitable environment to ensure their effectiveness and safety until they are used. Proper drug storage includes:

1. Protecting drugs from light, heat, and moisture: Exposure to these elements can degrade the quality and potency of medications. Therefore, it is recommended to store most drugs in a cool, dry place, away from direct sunlight.

2. Keeping drugs out of reach of children and pets: Medications should be stored in a secure location, such as a locked cabinet or medicine chest, to prevent accidental ingestion or harm to young children and animals.

3. Following storage instructions on drug labels and packaging: Some medications require specific storage conditions, such as refrigeration or protection from freezing. Always follow the storage instructions provided by the manufacturer or pharmacist.

4. Regularly inspecting drugs for signs of degradation or expiration: Check medications for changes in color, consistency, or odor, and discard any that have expired or show signs of spoilage.

5. Storing drugs separately from one another: Keep different medications separate to prevent cross-contamination, incorrect dosing, or accidental mixing of incompatible substances.

6. Avoiding storage in areas with high humidity or temperature fluctuations: Bathrooms, kitchens, and garages are generally not ideal for storing medications due to their exposure to moisture, heat, and temperature changes.

Proper drug storage is crucial for maintaining the safety, efficacy, and stability of medications. Improper storage can lead to reduced potency, increased risk of adverse effects, or even life-threatening situations. Always consult a healthcare professional or pharmacist for specific storage instructions and recommendations.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Neutropenia is a condition characterized by an abnormally low concentration (less than 1500 cells/mm3) of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial and fungal infections. Neutrophils are essential components of the innate immune system, and their main function is to engulf and destroy microorganisms that can cause harm to the body.

Neutropenia can be classified as mild, moderate, or severe based on the severity of the neutrophil count reduction:

* Mild neutropenia: Neutrophil count between 1000-1500 cells/mm3
* Moderate neutropenia: Neutrophil count between 500-1000 cells/mm3
* Severe neutropenia: Neutrophil count below 500 cells/mm3

Severe neutropenia significantly increases the risk of developing infections, as the body's ability to fight off microorganisms is severely compromised. Common causes of neutropenia include viral infections, certain medications (such as chemotherapy or antibiotics), autoimmune disorders, and congenital conditions affecting bone marrow function. Treatment for neutropenia typically involves addressing the underlying cause, administering granulocyte-colony stimulating factors to boost neutrophil production, and providing appropriate antimicrobial therapy to prevent or treat infections.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

An adenoma is a benign (noncancerous) tumor that develops from glandular epithelial cells. These types of cells are responsible for producing and releasing fluids, such as hormones or digestive enzymes, into the surrounding tissues. Adenomas can occur in various organs and glands throughout the body, including the thyroid, pituitary, adrenal, and digestive systems.

Depending on their location, adenomas may cause different symptoms or remain asymptomatic. Some common examples of adenomas include:

1. Colorectal adenoma (also known as a polyp): These growths occur in the lining of the colon or rectum and can develop into colorectal cancer if left untreated. Regular screenings, such as colonoscopies, are essential for early detection and removal of these polyps.
2. Thyroid adenoma: This type of adenoma affects the thyroid gland and may result in an overproduction or underproduction of hormones, leading to conditions like hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid).
3. Pituitary adenoma: These growths occur in the pituitary gland, which is located at the base of the brain and controls various hormonal functions. Depending on their size and location, pituitary adenomas can cause vision problems, headaches, or hormonal imbalances that affect growth, reproduction, and metabolism.
4. Liver adenoma: These rare benign tumors develop in the liver and may not cause any symptoms unless they become large enough to press on surrounding organs or structures. In some cases, liver adenomas can rupture and cause internal bleeding.
5. Adrenal adenoma: These growths occur in the adrenal glands, which are located above the kidneys and produce hormones that regulate stress responses, metabolism, and blood pressure. Most adrenal adenomas are nonfunctioning, meaning they do not secrete excess hormones. However, functioning adrenal adenomas can lead to conditions like Cushing's syndrome or Conn's syndrome, depending on the type of hormone being overproduced.

It is essential to monitor and manage benign tumors like adenomas to prevent potential complications, such as rupture, bleeding, or hormonal imbalances. Treatment options may include surveillance with imaging studies, medication to manage hormonal issues, or surgical removal of the tumor in certain cases.

Microsomes are subcellular membranous vesicles that are obtained as a byproduct during the preparation of cellular homogenates. They are not naturally occurring structures within the cell, but rather formed due to fragmentation of the endoplasmic reticulum (ER) during laboratory procedures. Microsomes are widely used in various research and scientific studies, particularly in the fields of biochemistry and pharmacology.

Microsomes are rich in enzymes, including the cytochrome P450 system, which is involved in the metabolism of drugs, toxins, and other xenobiotics. These enzymes play a crucial role in detoxifying foreign substances and eliminating them from the body. As such, microsomes serve as an essential tool for studying drug metabolism, toxicity, and interactions, allowing researchers to better understand and predict the effects of various compounds on living organisms.

Lipidoses are a group of genetic disorders characterized by abnormal accumulation of lipids (fats or fat-like substances) in various tissues and cells of the body due to defects in lipid metabolism. These disorders include conditions such as Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Wolman disease, among others. The accumulation of lipids can lead to progressive damage in multiple organs, resulting in a range of symptoms and health complications. Early diagnosis and management are essential for improving the quality of life and prognosis of affected individuals.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Adenoviridae is a family of viruses that includes many species that can cause various types of illnesses in humans and animals. These viruses are non-enveloped, meaning they do not have a lipid membrane, and have an icosahedral symmetry with a diameter of approximately 70-90 nanometers.

The genome of Adenoviridae is composed of double-stranded DNA, which contains linear chromosomes ranging from 26 to 45 kilobases in length. The family is divided into five genera: Mastadenovirus, Aviadenovirus, Atadenovirus, Siadenovirus, and Ichtadenovirus.

Human adenoviruses are classified under the genus Mastadenovirus and can cause a wide range of illnesses, including respiratory infections, conjunctivitis, gastroenteritis, and upper respiratory tract infections. Some serotypes have also been associated with more severe diseases such as hemorrhagic cystitis, hepatitis, and meningoencephalitis.

Adenoviruses are highly contagious and can be transmitted through respiratory droplets, fecal-oral route, or by contact with contaminated surfaces. They can also be spread through contaminated water sources. Infections caused by adenoviruses are usually self-limiting, but severe cases may require hospitalization and supportive care.

Purines are heterocyclic aromatic organic compounds that consist of a pyrimidine ring fused to an imidazole ring. They are fundamental components of nucleotides, which are the building blocks of DNA and RNA. In the body, purines can be synthesized endogenously or obtained through dietary sources such as meat, seafood, and certain vegetables.

Once purines are metabolized, they are broken down into uric acid, which is excreted by the kidneys. Elevated levels of uric acid in the body can lead to the formation of uric acid crystals, resulting in conditions such as gout or kidney stones. Therefore, maintaining a balanced intake of purine-rich foods and ensuring proper kidney function are essential for overall health.

Insulin is a hormone produced by the beta cells of the pancreatic islets, primarily in response to elevated levels of glucose in the circulating blood. It plays a crucial role in regulating blood glucose levels and facilitating the uptake and utilization of glucose by peripheral tissues, such as muscle and adipose tissue, for energy production and storage. Insulin also inhibits glucose production in the liver and promotes the storage of excess glucose as glycogen or triglycerides.

Deficiency in insulin secretion or action leads to impaired glucose regulation and can result in conditions such as diabetes mellitus, characterized by chronic hyperglycemia and associated complications. Exogenous insulin is used as a replacement therapy in individuals with diabetes to help manage their blood glucose levels and prevent long-term complications.

Fucosidosis is a rare inherited metabolic disorder caused by the deficiency of the enzyme alpha-L-fucosidase. This enzyme is responsible for breaking down complex sugars called glycoproteins and glycolipids in the body. Without sufficient levels of this enzyme, these substances accumulate in various tissues and organs, leading to progressive cellular damage and impaired function.

The condition is characterized by a wide range of symptoms, including coarse facial features, developmental delays, intellectual disability, seizures, vision and hearing loss, cardiac problems, and skeletal abnormalities. There are two main types of fucosidosis, type 1 and type 2, which differ in the age of onset and severity of symptoms.

Fucosidosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. It is typically diagnosed through enzyme assays and genetic testing. Currently, there is no cure for fucosidosis, and treatment is focused on managing symptoms and improving quality of life.

Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009 "Glycogen Storage Disease Type I". Association for ... GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man "Definition: glycogen storage disease type ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan storage ...
GeneReview/NIH/UW entry on Glycogen Storage Disease Type I Media related to Glycogen storage disease type I at Wikimedia ... Glycogen-Storage Disease Type I at eMedicine https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/ Nation ... Glycogen Storage Disease Ic - 232240 PARKER, PAUL (1981). "Regression of hepatic adenomas in type Ia glycogen storage disease ... "Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage ...
"glycogen storage disease type III". Genetics Home Reference. Retrieved 2016-08-07. "Glycogen storage disease type 3 , Genetic ... Scholia has a topic profile for Glycogen storage disease type III. Media related to Glycogen storage disease type III at ... "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi: ... which in turn helps in glycogen decomposition. In terms of the diagnosis for glycogen storage disease type III, the following ...
... (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen ... "Glycogen storage disease type VI". GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI Media related to Glycogen ... Glycogen storage disease due to liver glycogen phosphorylase deficiency". www.orpha.net. Retrieved 11 April 2019. Glycogen- ... The scope of GSD VI now also includes glycogen storage disease type VIII, IX (caused by phosphorylase b kinase deficiency) and ...
Another glycogen storage disease that affects muscle (muscle GSD); Metabolic myopathy other than glycogen storage disease; ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder, one of the metabolic ... Glycogen storage disease Hitting the wall (muscle fatigue due to glycogen depletion) Inborn errors of carbohydrate metabolism ...
Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen ... "Glycogen-Storage Disease Type 0" "Orphanet: Glycogen storage disease due to hepatic glycogen synthase deficiency". www.orpha. ... The overall frequency of glycogen-storage disease is approximately 1 case per 20,000-25,000 people. Glycogen-storage disease ... Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although ...
... (GSD IV), or Andersen's Disease, is a form of glycogen storage disease, which is caused by an ... "Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive ... "Andersen Disease (GSD IV)". National Organization for Rare Disorders. Retrieved 5 February 2023. "Glycogen Storage Disease Type ... Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. Andersen's disease affects 1 in 800,000 ...
"Type II Glycogen Storage Disease". The Association for Glycogen Storage Disease. Archived from the original on June 23, 2012. ... Association of Glycogen Storage Disease in the United States AGSD-UK - Association of Glycogen Storage Disease in the UK AMDA ... GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Understanding Pompe Disease - US National Institute ...
... glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual. Mutations in PHKA2 have ... Scholia has a topic profile for Glycogen storage disease type IX. Media related to Glycogen storage disease type IX at ... Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and ... been seen in individuals with glycogen storage disease IXa2.[medical citation needed] The management of Glycogen storage ...
Wikimedia Commons has media related to Glycogen. "Glycogen storage disease". McArdle's Diseases. Glycogen at the U.S. National ... These are collectively referred to as glycogen storage diseases. Long-distance athletes, such as marathon runners, cross- ... It is the main storage form of glucose in the human body. Glycogen functions as one of two forms of energy reserves, glycogen ... Glycogen is an analogue of starch, a glucose polymer that functions as energy storage in plants. It has a structure similar to ...
GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III OMIM entries on Glycogen Storage Disease Type III Glycogen+ ... Mapping the disease-causing mutations onto the GDE structure provided insights into glycogen storage disease type III. The ... When GDE activity is compromised, the body cannot effectively release stored glycogen, type III Glycogen Storage Disease ( ... When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen ...
Mingyi, Chen (2011). Glycogen Storages Diseases chapter of Molecular Pathology of Liver Diseases. Springer. pp. 677-682. ISBN ... Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease) in newborns and ... Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease). This enzyme ... Since glycogen is a readily mobilized storage form of glucose, the extended glycogen polymer is branched by glycogen branching ...
Mahler, Robert (1969). "Glycogen storage diseases". J Clin Pathol Suppl (Assoc Clin Pathol). 2: 32-41. doi:10.1136/jcp.22.Suppl ... research on the effects of insulin on hepatic glucose metabolism and on elucidating the enzymatic defect in McArdle's disease. ...
"Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". The ... The control of glycogen synthase is a key step in regulating glycogen metabolism and glucose storage. Glycogen synthase is ... Mutations in the GYS1 gene are associated with glycogen storage disease type 0. In humans, defects in the tight control of ... Liver glycogen serves as a storage pool to maintain the blood glucose level during fasting, whereas muscle glycogen synthesis ...
"Tarui disease". The Swedish Information Center for Rare Diseases. University of Gothenburg. "Glycogen Storage Disease Type VII ... "Glycogen Storage Disease Type VII". Genetics Home Reference. US National Library of Medicine. Toscano A, Musumeci O (October ... Unlike most other glycogen storage diseases, it directly affects glycolysis. The mutation impairs the ability of ... "Glycogen Storage Diseases (Glycogenoses; GSD)". Mount Sinai Hospital. "Phosphofructokinase Deficiency (PFK)". PennGen ...
Tarui's disease, a glycogen storage disease that leads to exercise intolerance, is due to a mutation in the PFK gene that ... "Phosphofructokinase Deficiency Glycogen Storage Disease". Bauer S, Kemter K, Bacher A, Huber R, Fischer M, Steinbacher S (March ... Castleman's disease)". Clinical Infectious Diseases. 22 (6): 1120-1121. doi:10.1093/clinids/22.6.1120. PMID 8783733. Scheeff ED ... Mutations in kinases that lead to a loss-of-function or gain-of-function can cause cancer and disease in humans, including ...
The human form of the disease is known as glycogen storage disease type IV. Glycogen is a molecular polymer of glucose used to ... Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and ... This causes low levels of muscle glycogen that is very resistant to amylase. Lacking proper glycogen storage, the horse's brain ... This genetic disease has been linked to the foundation Quarter Horse sire King P-234. "Testing for Genetic Diseases" Equus 353 ...
"Glycogen storage disease XI - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2 March 2016. "LDHB gene". Genetics ... also known as glycogen storage disease XI) or lactate dehydrogenase-B deficiency. Both of these conditions affect how the body ... Glycogen storage disease Lactate Metabolic myopathies Oxidoreductase This article incorporates text from the public domain Pfam ... "Diseases - Metabolic Diseases - Causes/Inheritance". Muscular Dystrophy Association. 18 December 2015. Retrieved 2 March 2016. ...
"Association for Glycogen Storage Disease - Lafora Disease". 17 October 2018. Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, ... Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has ... "Lafora Disease". AGSD-UK. 2018-10-17. Retrieved 2021-11-28. "Lafora disease , Genetic and Rare Diseases Information Center ( ... The glycogen in LD patients also has higher phosphate levels and is present in greater quantities. Lafora disease is diagnosed ...
... glucose 6-phosphatase including glycogen storage disease; phosphoribosyl pyrophosphate synthetase, phosphoribosyl pyrophosphate ... Allopurinol cotherapy is used to improve outcomes for people with inflammatory bowel disease and Crohn's disease who do not ... neoplastic disease and myeloproliferative disease with high cell turnover rates, in which high urate levels occur either ... The specific diseases and conditions where it is used include gouty arthritis, skin tophi, kidney stones, idiopathic gout; uric ...
... and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease ... Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. ... Glycogen Storage Disease Type II (Pompe Disease). Seattle (WA): University of Washington, Seattle. PMID 20301438. " ... Non-alcoholic fatty liver disease is a spectrum of disease associated with obesity and metabolic syndrome. Hereditary diseases ...
AGSD - Association of Glycogen Storage Disease in the United States AGSD-UK - Association of Glycogen Storage Disease in the UK ... or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage ... Autophagic vacuolar myopathy Glycogen storage disease GSD-II (Pompe disease, formerly GSD-IIa) Inborn errors of carbohydrate ... January 1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology. 31 (1): 51-7. doi:10.1212/wnl.31.1.51 ...
"Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Wakelin A (2017). Living With McArdle Disease (PDF). IamGSD - International Association for Muscle Glycogen Storage Disease. ... International Association for Muscle Glycogen Storage Disease study group) (December 2021). " ... "Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study". Journal of Inherited Metabolic Disease. ...
Mutations in both glucose 6-phosphatase-α and G6PT lead to glycogen storage disease type I (GSD 1, von Gierke's disease). To be ... 1993). "Glycogen Storage Disease Type I". PMID 20301489. {{cite journal}}: Cite journal requires ,journal= (help) Chou JY, ... Chou JY, Jun HS, Mansfield BC (December 2010). "Glycogen storage disease type I and glucose-6-phosphatase-β deficiency: ... "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex". Current Molecular Medicine. 2 (2): 121-43. ...
Moris J. Danon (1981). "Lysosomal glycogen storage disease with normal acid maltase". Neurology. 31 (1). doi:10.1212/WNL.31.1. ... Uniform type I fiber congenital neuromuscular disease as a new disease entity A second case of Danon disease Inventing "near- ... "Twelfth Annual Oh Lecture Looks at Neuromuscular Diseases". News Archive, The University of Alabama at Birmingham. Shin J Oh ( ... Shin J Oh (1983). "Nonprogressive Congenital Neuromuscular Disease With Uniform Type 1 Fiber". Archives of Neurology. 40 (3): ...
2) The absence of a functional G6PT1 enzyme causes glycogen storage disease type Ib, commonly referred to as von Gierke disease ... Narisawa K, Igarashi Y, Otomo H, Tada K (August 1978). "A new variant of glycogen storage disease type I probably due to a ... September 1999). "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate ... Chou JY, Matern D, Mansfield BC, Chen YT (March 2002). "Type I glycogen storage diseases: disorders of the glucose-6- ...
She went on to research diseases related to the storage of glycogen where these enzymes were absent. She applied some of Carl ... She played a similar role in therapeutic research into glycogen storage disease type I. Her husband, David H. Brown, was also a ... Eberlein, Walter R; Illingworth, Barbara A; Sidbury, James B (1962). "Heterogeneous glycogen storage disease in siblings and ... "Portal diversion for the treatment of glycogen storage disease in humans". Annals of Surgery. 178 (4): 525-539. doi:10.1097/ ...
... formerly known as glycogen storage disease type 14 (GSD XIV). The disease is both a glycogenosis and a congenital disorder of ... ISBN 978-0-07-079570-9. "Orphanet: Glycogen storage disease due to phosphoglucomutase deficiency". www.orpha.net. Retrieved May ... April 1988). "Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum ... Low ATP reservoir in muscles Glycogen storage disease Inborn errors of carbohydrate metabolism Metabolic myopathies Mutase ...
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S; International Association for Muscle Glycogen Storage Disease ... Wakelin, Andrew (2017). Living With McArdle Disease (PDF). IAMGSD (International Assoc. of Muscle Glycogen Diseases). p. 15. ... It can occur in seemingly healthy individuals with no history of cardiovascular disease. Other causes may include autonomic ...
"Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446-463. doi:10.1097/GIM. ... "600332 - RIPPLING MUSCLE DISEASE 1; RMD1". omim.org. Retrieved 2023-07-03. "#606072 - RIPPLING MUSCLE DISEASE 2; RMD2". omim. ... "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037-1042 ... Reimers, C. D.; Schlotter, B.; Eicke, B. M.; Witt, T. N. (November 1996). "Calf enlargement in neuromuscular diseases: a ...
Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009 "Glycogen Storage Disease Type I". Association for ... GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man "Definition: glycogen storage disease type ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan storage ...
... is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Explore symptoms, ... medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/ Glycogen storage disease type IV. ... Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in ... Catalog of Genes and Diseases from OMIM. *GLYCOGEN STORAGE DISEASE IV; GSD4 ...
Clinical characteristics: The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span ... Diagnosis/testing: The diagnosis is established in a proband by the demonstration of glycogen branching enzyme (GBE) deficiency ... The following evaluations are suggested (with frequency varying according to disease severity): liver function tests including ... ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in ...
These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. ... A glycogen storage disease (GSD) is the result of an enzyme defect. ... encoded search term (Type IV Glycogen Storage Disease) and Type IV Glycogen Storage Disease What to Read Next on Medscape ... Glycogen storage disease type IV (GSD IV), or Andersen disease, is an autosomal recessive disorder caused by mutations in the ...
Pompe first described the disease in 1932 when he was presented with a 7-month-old girl who died after developing idiopathic ... also referred to as Pompe disease, is an autosomal recessive disorder that results from the deficiency of acid alpha- ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease)) and Genetics of Glycogen-Storage Disease Type II (Pompe Disease) ... Genetics of Glycogen-Storage Disease Type II (Pompe Disease) * Sections Genetics of Glycogen-Storage Disease Type II (Pompe ...
... is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-α- ... Results : Glycogen quantitation was markedly increased and AGL activity was undetectable in both patients. Sequence analysis of ... Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen ... Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. * Sue-Hyun Oh , Hyung- ...
Glycogen storage disease. In: StatPearls. StatPearls Publishing; 2021. [Updated: Jun 2021; Accessed: Aug 2021] ... Glycogen storage disease-StatPearls * Stone WL, Basit H, Adil A. Glycogen storage disease. In: StatPearls. StatPearls ...
... is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV ... also known as glycogen storage disease type IV (MIM 232500), ... Anderson disease, also known as glycogen storage disease type ... Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later- ... Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent ...
These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. ... A glycogen storage disease (GSD) is the result of an enzyme defect. ... encoded search term (Type V Glycogen Storage Disease) and Type V Glycogen Storage Disease What to Read Next on Medscape ... Bollig G. McArdles disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature. ...
... *PTA17333 Avaglucosidase: A French multicenter Phase 4 open label extension ... By clicking on "Accept all", you consent to the storage of cookies on your device to improve your navigation on the site, ... study of long -term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase ...
Heres a video breakdown to make sure you understand this difficult glycogen storage diseases practice question for the USMLE ... Main Learning Point: This patient most likely has McArdle disease (type V). McArdle disease is a glycogen storage disease (GSD ... Tags: comlexcomlex level 1Glycogen Storage DiseaseGSDmedcramPractice QuestionsSample Questionsusmleusmle step 1videovideo ... Glycogen Storage Diseases Practice Question. The Question: An 11-year-old boy complains of sore muscles, muscle cramps, and ...
... external resources Glycogen ICD-10 E74.0 ICD-9 271.0 OMIM 232700 DiseasesDB ... Glycogen storage disease type VI Glycogen storage disease type VIClassification & ... Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase. ... Gauchers disease - Niemann-Pick disease - Farber disease - Fabrys disease - Metachromatic leukodystrophy - Krabbe disease. ...
Glycogen storage disease type III manifests a wide clinical spectrum. Individuals with glycogen storage disease type III ... PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart ... Glycogen storage disease type III diagnosis and management guidelines.. Priya S Kishnani, Stephanie L Austin, Pamela Arn, ... METHODS: An international group of experts in various aspects of glycogen storage disease type III met to review the evidence ...
Supplementary test information for Glycogen Storage Disorders Panel, Sequencing such as test interpretation, additional tests ... Glycogen storage disease-StatPearls Stone WL, Basit H, Adil A. Glycogen storage disease. In: StatPearls. StatPearls Publishing ... Glycogen storage diseases_diagnosis, treatment and outcome Chen MA, Weinstein, DA. Glycogen storage diseases: diagnosis, ... Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease ...
USMLE Step 1 General Pathology Active Recall Review [Pathoma Ch 1-3 ...
N2 - BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6- ... AB - BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6- ... BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6- ... abstract = "BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in ...
... raise awareness about an at-home research opportunity for adult patients and children diagnosed with Glycogen storage disease ... Rare-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare diseases.. We need ... policy makers and other rare disease organizations to get a better understanding of how we move the needle forward for GSD1b ...
Glycogen Storage Disease, The University of Kansas Medical Center. *Glycogen Storage Disease Type I, Health on the Net ... Patients with glycogen storage disease type I are unable to release glucose from glycogen. Because free glucose is the product ... Glycogen storage disease type 1b, eMedicine. Genetic:. *Laboratorio Diagnosi Pre-Postnatale delle Malattie Metaboliche - ... They may also develop chronic pancreatitis, chronic inflammatory bowel disease, and Crohns disease. Recurrent infections, ...
... or glycogen synthetase deficiency, commonly appears in infancy and early childhood with fasting hypoglycemia accompanied by ... encoded search term (Glycogen-Storage Disease Type 0) and Glycogen-Storage Disease Type 0 What to Read Next on Medscape ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Glycogen-Storage Disease Type 0 Differential Diagnoses. Updated: ... A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. BMC Med Genet. 2010 Jan 5. 11 ...
... was created to help patients and parents affected by Glycogen Storage Disease (GSD). ... The Canadian Association for Glycogen Storage Disease (CAGSD) ... The Canadian Organization for Glycogen Storage Disease ( ... Our friends at Scandinavian Association for Glycogen Storage Disease produced an informative documentary on the topic of GSD, ... Our purposes include: providing individuals affected with GSD and their families with access to information about the disease, ...
"Glycogen Storage Disease Type V" by people in this website by year, and whether "Glycogen Storage Disease Type V" was a major ... "Glycogen Storage Disease Type V" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Glycogen Storage Disease Type V*Glycogen Storage Disease Type V. *Glycogen Storage Disease Type 5 ... Below are the most recent publications written about "Glycogen Storage Disease Type V" by people in Profiles. ...
... type IIIa is a disorder that affects the metabolism of glycogen. ... Glycogen Storage Disease Type IIIa, (GSD IIIa). Glycogen ... Gregory, B. L., Diane Shelton, G., Bali, D. S., Chen, Y. T., & Fyfe, J. C. (2007). Glycogen storage disease type IIIa in curly- ... storage disease (GSD) type IIIa is a disorder that affects the metabolism of glycogen. ... This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier ...
Glycogen Storage Diseases - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... For a more complete listing of glycogen storage diseases, see table Glycogen Storage Diseases and Disorders of Gluconeogenesis ... Diagnosis of glycogen storage diseases is suspected by history, examination, and detection of glycogen and intermediate ... Inheritance for glycogen storage diseases (GSDs) is autosomal recessive Autosomal Recessive Genetic disorders determined by a ...
These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. ... A glycogen storage disease (GSD) is the result of an enzyme defect. ... encoded search term (Type V Glycogen Storage Disease) and Type V Glycogen Storage Disease What to Read Next on Medscape ... Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. 1982 Dec 27. 150(2):489-93. [ ...
Learn and reinforce your understanding of Glycogen storage disease type I. ... Glycogen storage disease type I Videos, Flashcards, High Yield Notes, & Practice Questions. ...
Donate and other ways to help Canadian Association for Glycogen Storage Disease. ... Organize a fundraiser and make a donation to Canadian Association for Glycogen Storage Disease. Some ideas for fundraising may ... Note: Canadian Association for Glycogen Storage Disease thanks you for your generous donation !. ...
to check your genetic variants for Glycogen Storage Disease ... Glycogen storage and weight loss Glycogen storage and weight ... What causes Glycogen Storage Diseases? Get ready for some science-ing. The cause of Glycogen Storage Disease is genetic. ... Diagnosis of Glycogen Storage Diseases. As the age of onset is rather young in the case of Glycogen Storage Diseases, doctors ... As the symptoms set out at an early age, Glycogen Storage Disease appears to affect the little ones more than the adults. ...
Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is caused by a deficiency in the activity of the ... Molecular Genetics of Type 1 Glycogen Storage Diseases.. Yang Chou J, Mansfield. Trends in Endocrinology and Metabolism : TEM ... our understanding of the interrelationship between the components of the G6Pase complex and type 1 glycogen storage diseases. ... The disease presents with both clinical and biochemical heterogeneity consistent with the existence of two major subgroups, GSD ...
  • See inborn errors of carbohydrate metabolism for a full list of inherited diseases that affect glycogen synthesis, glycogen breakdown, or glucose breakdown. (wikipedia.org)
  • Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. (wikipedia.org)
  • Polyglucosan storage myopathies are associated with defective glycogen metabolism (Not McArdle disease, same gene but different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. (wikipedia.org)
  • Glycogen storage disease type IV (GSD IV), or Andersen disease, is an autosomal recessive disorder caused by mutations in the gene-encoding glycogen-branching enzyme necessary for normal glycogen metabolism. (medscape.com)
  • Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-α-glucanotransferase (AGL). (degruyter.com)
  • Glycogen storage diseases (GSDs) are a group of inborn errors of metabolism, typically caused by enzyme defects, resulting in a buildup of glycogen in the liver, muscles, and other organs. (arupconsult.com)
  • BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6-phosphatase (G6PC1) activity, which induces severe hepatomegaly and increases the risk for liver cancer. (rug.nl)
  • To study the role of fat metabolism in GSD type V, Andersen et al manipulated the availability of free fatty acid for oxidation during exercise in 10 patients with the disease. (medscape.com)
  • Glycogen storage disease (GSD) type IIIa is a disorder that affects the metabolism of glycogen. (wisdompanel.com)
  • Type I (von Gierke) glycogen storage disease is due to inherited deficiency of enzymes in glycogen metabolism, which causes hypoglycemia. (autopsyandcasereports.org)
  • A benign inborn error of glycogen metabolism. (globalgenes.org)
  • Overview of disorders of glycogen metabolism. (springer.com)
  • GSD IX has become the dominant classification for this disease, grouped with the other isoenzymes of phosphorylase-b kinase deficiency. (wikipedia.org)
  • See Glycogen phosphorylase§Regulation). (wikipedia.org)
  • GSD type V is an autosomal recessive disease resulting from mutations in the PYGM gene that encodes for the muscle isoform of glycogen phosphorylase (myophosphorylase). (medscape.com)
  • McArdle disease results from a deficiency in the enzyme myophosphorylase (also called muscle glycogen phosphorylase). (boardvitals.com)
  • C. Hepatic glycogen phosphorylase deficiency is most commonly associated with Hers (type VI) disease. (boardvitals.com)
  • Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase . (chemeurope.com)
  • Glycogen Phosphorylase and glycogen debranching enzymes help in unraveling the molecule to release glucose and expend energy. (xcode.life)
  • Together with phosphorylase , glycogen debranching enzymes function in glycogen breakdown and glucose mobilization. (wikidoc.org)
  • When phosphorylase has digested a glycogen branch down to four glucose residues, it will not remove further residues. (wikidoc.org)
  • Glycogen debranching enzymes assist phosphorylase, the primary enzyme involved in glycogen breakdown , mobilize glycogen stores. (wikidoc.org)
  • Phosphorylase can only cleave α-1,4- glycosidic bond between adjacent glucose molecules in glycogen but branches exist as α-1,6 linkages. (wikidoc.org)
  • because 1 in 10 residues is branched, cleavage by phosphorylase alone would not be sufficient in mobilizing glycogen stores. (wikidoc.org)
  • Thus the debranching enzymes, transferase and α-1,6- glucosidase converts the branched glycogen structure into a linear one, paving the way for further cleavage by phosphorylase. (wikidoc.org)
  • Magnetic Luminex Assay Kit for Glycogen Phosphorylase, Liver (PYGL) ,etc. (uscnk.com)
  • Our friends at Scandinavian Association for Glycogen Storage Disease produced an informative documentary on the topic of GSD, including interviews with some of the world's leading GSD doctors. (canadianagsd.org)
  • Organize a fundraiser and make a donation to Canadian Association for Glycogen Storage Disease. (canadianagsd.org)
  • The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. (globalgenes.org)
  • Methods to diagnose glycogen storage diseases include history and physical examination for associated symptoms, blood tests for associated metabolic disturbances, and genetic testing for suspected mutations. (wikipedia.org)
  • GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. (medlineplus.gov)
  • This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal. (nih.gov)
  • Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (medscape.com)
  • Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. (medscape.com)
  • [1] When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can result. (wikidoc.org)
  • Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. (nih.gov)
  • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (springer.com)
  • GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems. (wikipedia.org)
  • Although at least 14 unique GSDs are discussed in the literature, the four that cause clinically significant muscle weakness are Pompe disease ( GSD type II , acid maltase deficiency), Cori disease ( GSD type III , debranching enzyme deficiency), McArdle disease ( GSD type V , myophosphorylase deficiency), and Tarui disease ( GSD type VII , phosphofructokinase deficiency). (medscape.com)
  • Other GSDs do not have this abnormal glycogen structure. (medscape.com)
  • In general, no specific treatment exists to cure glycogen storage diseases (GSDs). (medscape.com)
  • Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. (biomedcentral.com)
  • Glycogen storage diseases (GSDs) refer to a group of inherited disorders caused by the absence of essential enzymes in the synthesis or degradation of glycogen [ 1 , 2 ]. (biomedcentral.com)
  • The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. (medlineplus.gov)
  • In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. (medlineplus.gov)
  • Patient complaints probably relate to end-organ injuries of Andersen disease, such as hepatic failure, cardiomyopathy, or muscular atrophy. (medscape.com)
  • This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in glycogen storage disease type III. (qxmd.com)
  • Previously, we showed that ChREBP activation limits non-alcoholic fatty liver disease (NAFLD) in hepatic GSD Ia. (rug.nl)
  • As ChREBP has been proposed as a pro-oncogenic molecular switch that supports tumour progression, we hypothesized that ChREBP normalization protects against liver disease progression in hepatic GSD Ia. (rug.nl)
  • CONCLUSIONS: In conclusion, our findings indicate that ChREBP activity limits hepatomegaly while decelerating liver disease progression and protecting against chromosomal instability in hepatic GSD Ia. (rug.nl)
  • In addition, they underline the importance of establishing the context-specific roles of hepatic ChREBP to define its therapeutic potential to prevent or treat advanced liver disease. (rug.nl)
  • As ChREBP has been proposed as a pro-oncogenic molecular switch that supports tumour progression, we hypothesized that ChREBP normalization protects against liver disease progression in hepatic GSD Ia.METHODS: Hepatocyte-specific G6pc knockout (L-G6pc-/-) mice were treated with AAV-shChREBP to normalize hepatic ChREBP activity.RESULTS: Hepatic ChREBP normalization in GSD Ia mice induced dysplastic liver growth, massively increased hepatocyte size, and was associated with increased hepatic inflammation. (rug.nl)
  • Because free glucose is the product of the hepatic glucose-6 phosphatase reaction, either type leads to accumulation of liver glycogen, accompanied by fasting hypoglycemia. (lu.se)
  • Aynsley-Green A, Williamson DH, Gitzelmann R. Asymptomatic hepatic glycogen-synthetase deficiency. (medscape.com)
  • Hepatic glycogen synthetase deficiency. (medscape.com)
  • Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies. (medscape.com)
  • Glucose homeostasis in adulthood and in pregnancy in a patient with hepatic glycogen synthetase deficiency. (medscape.com)
  • Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. (medscape.com)
  • Prognosis for and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms. (msdmanuals.com)
  • A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. (wikipedia.org)
  • Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. (nih.gov)
  • Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is caused by a deficiency in the activity of the enzyme glucose-6-phosphatase (G6Pase). (qxmd.com)
  • A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. (lincoln.ac.uk)
  • Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. The variable clinical phenotype of liver glycogen synthase deficiency. (medscape.com)
  • Liver glycogen synthase deficiency: a rarely diagnosed entity. (medscape.com)
  • Laberge AM, Mitchell GA, van de Werve G. Long-term follow-up of a new case of liver glycogen synthase deficiency. (medscape.com)
  • Rutledge SL, Atchison J, Bosshard NU, Steinmann B. Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. (medscape.com)
  • thus, an enzyme deficiency results in glycogen accumulation in specific tissues. (medscape.com)
  • Carbohydrate metabolic pathways are blocked, leading to excess glycogen accumulation in affected tissues and/or disturbances in energy production. (medscape.com)
  • The accumulation of glycogen results in a variety of clinical manifestations, such as exercise intolerance, severe muscle cramps, muscle swelling, weakness, and fatigue. (boardvitals.com)
  • At the opportunity, the pathologist visualized glycogen accumulation in vesicles inside the cardiac fibers1. (bvsalud.org)
  • These inherited enzyme defects usually present in childhood, although some, such as McArdle disease and Pompe disease, have separate adult-onset forms. (medscape.com)
  • Myophosphorylase, the deficient enzyme in McArdle disease, is found in muscle tissue. (medscape.com)
  • One hallmark of McArdle disease is weakness with exertion. (medscape.com)
  • This patient most likely has McArdle disease (type V). McArdle disease is a glycogen storage disease (GSD) and is inherited in an autosomal recessive manner. (boardvitals.com)
  • Pharmacological and Nutritional Treatment for McArdle Disease (Glycogen Storage Disease Type V)." Evidence-Based Medicine Guidelines , Duodecim Medical Publications Limited, 2019. (unboundmedicine.com)
  • Individuals with the disease have both a glycolytic block as muscle glycogen cannot be broken down, as well as abnormal serum transferrin (loss of complete N-glycans). (wikipedia.org)
  • Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. (medlineplus.gov)
  • the deficiencies may occur in the liver or muscles and cause hypoglycemia or deposition of abnormal amounts or types of glycogen (or its intermediate metabolites) in tissues. (msdmanuals.com)
  • It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia glycogen-storage disease could be due to an abnormal production of vasoconstrictive amines such as serotonin. (lincoln.ac.uk)
  • It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension. (lincoln.ac.uk)
  • One of the four glycogen storage diseases characterized by phosphofructokinase deficiency in the muscles and associated with abnormal deposition of glycogen in muscle tissues, exercise intolerance, and anemia. (mhmedical.com)
  • Interestingly, GSD type 0 also is described and is a disorder causing glycogen deficiency due to defective glycogen synthase. (medscape.com)
  • The diagnosis is established in a proband by the demonstration of glycogen branching enzyme (GBE) deficiency in liver, muscle, or skin fibroblasts or the identification of biallelic pathogenic variants in GBE1 on molecular genetic testing. (nih.gov)
  • If the GBE1 pathogenic variants have been identified in an affected family member, test at-risk relatives to allow for early diagnosis and management of disease manifestations. (nih.gov)
  • Pompe disease: early diagnosis and early treatment make a difference. (medscape.com)
  • Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. (medscape.com)
  • Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. (medscape.com)
  • Glycogen storage disease type III diagnosis and management guidelines. (qxmd.com)
  • This guideline for the management of glycogen storage disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. (qxmd.com)
  • A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with glycogen storage disease type III was developed. (qxmd.com)
  • This guideline will help health care providers recognize patients with all forms of glycogen storage disease type III, expedite diagnosis, and minimize stress and negative sequelae from delayed diagnosis and inappropriate management. (qxmd.com)
  • Diagnosis of glycogen storage diseases is suspected by history, examination, and detection of glycogen and intermediate metabolites in tissues by MRI or biopsy. (msdmanuals.com)
  • This report is the case of a patient with von Gierke disease and a missed diagnosis of pulmonary mucormycosis. (autopsyandcasereports.org)
  • The diagnosis and management of the acutely ill child with suspected metabolic disease can present a formidable challenge to even the most astute clinician. (springer.com)
  • Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. (medscape.com)
  • Diagnosis and treatment of Wilson disease: an update. (medscape.com)
  • Schilsky ML. Wilson disease: diagnosis, treatment, and follow-up. (medscape.com)
  • In patients with cirrhosis, liver disease, or other risk factors for HCC, and with lesions greater than 1 cm, triple-phase, contrast-enhanced studies (dynamic computed tomography [CT] or magnetic resonance imaging [MRI]) can be used to establish a diagnosis of HCC. (oncolink.org)
  • Meticulous adherence to a dietary regimen to maintain a euglycemic state and prevent the formation of excessive glycogen may reduce the liver size, prevent hypoglycemia, reduce symptoms, and allow growth and development. (medscape.com)
  • B. Glucose-6-phosphatase deficiency is most commonly associated with Von Gierke disease (type I). Von Gierke disease presents with severe fasting hypoglycemia, elevated blood lactate levels (lactic acidosis), hyperlipidemia, hyperuricemia (a predisposition for gout), and hepatomegaly. (boardvitals.com)
  • Individuals with glycogen storage disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. (qxmd.com)
  • How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis? (autopsyandcasereports.org)
  • The glycogen storage disease (GSD) is a group of inherited disorders that involve deficiencies in the enzymes that metabolize glycogen. (opendentistryjournal.com)
  • Specific enzymes breakdown molecules of glycogen into glucose, which is used as a source of energy by the organism. (opendentistryjournal.com)
  • The GSD is a rare autosomal recessive disease, and it exists in a variety of forms in accordance to specific enzymes involved [ 2 ]. (opendentistryjournal.com)
  • For this process to take place, some special proteins called enzymes (biocatalysts) aid the formation and deformation of glycogen. (xcode.life)
  • When these enzymes don't function optimally, it leads to a spectrum of diseases. (xcode.life)
  • Now, some branching enzymes add branches to Glycogen, which the liver then stores as a reservoir of energy. (xcode.life)
  • Together with phosphorylases , debranching enzymes mobilize glucose reserves from glycogen deposits in the muscles and liver. (wikidoc.org)
  • Proteins that catalyze both functions are referred to as glycogen debranching enzymes (GDEs). (wikidoc.org)
  • When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme . (wikidoc.org)
  • For example, in familial hypercholesterolemia, enzymes do not receive the signals that typically inhibit cholesterol synthesis, so that excessive production of cholesterol occurs, leading to early coronary vascular disease and strokes in patients. (newworldencyclopedia.org)
  • Infantile hypoglycaemia due to inherited deficiency of glycogen synthetase in liver. (medscape.com)
  • The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. (nih.gov)
  • Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. (medscape.com)
  • Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III" Clinical Chemistry and Laboratory Medicine , vol. 46, no. 9, 2008, pp. 1245-1249. (degruyter.com)
  • Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. (nih.gov)
  • Heterozygotes usually do not manifest clinical features of the disease. (medscape.com)
  • Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. (qxmd.com)
  • Glycogen storage disease type III manifests a wide clinical spectrum. (qxmd.com)
  • Hepatomegaly is the clinical hallmark of disease. (lu.se)
  • Please note: It is possible that disease signs similar to the ones caused by the GSD mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
  • The disease presents with both clinical and biochemical heterogeneity consistent with the existence of two major subgroups, GSD-1a and GSD-1b, which have been confirmed at the molecular genetic level. (qxmd.com)
  • The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure. (globalgenes.org)
  • For a list of clinical trials in this disease area, please click here . (globalgenes.org)
  • Soni D, Shukla G, Singh S, Goyal V, Behari M. Cardiovascular and sudomotor autonomic dysfunction in Wilson's disease--limited correlation with clinical severity. (medscape.com)
  • Unknown glycogenosis related to dystrophy gene deletion: patient has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology. (wikipedia.org)
  • The GBE1 gene provides instructions for making the glycogen branching enzyme. (medlineplus.gov)
  • A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. (medscape.com)
  • Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. (medscape.com)
  • This results in the inability of the muscle to metabolize glycogen to glucose. (boardvitals.com)
  • Sophie's Hope Foundation and CureGSD1b, in partnership with Sanguine Biosciences, is reaching out to raise awareness about an at-home research opportunity for adult patients and children diagnosed with Glycogen storage disease type 1B (GSD1B). (curegsd1b.org)
  • Understanding glycogen storage disease type 1b and its impacts. (sciani.com)
  • Glycogen Storage Disease Type 1b (GSD1b) is a rare genetic disorder that has a huge impact on patients' lives and the lives of their families. (sciani.com)
  • Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. (medlineplus.gov)
  • Generally, the severity of the disorder is linked to the amount of functional glycogen branching enzyme that is produced. (medlineplus.gov)
  • RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. (nih.gov)
  • Glycogen Storage Disease Type Ia (GSD Ia) is a severe metabolic disorder causing critically low blood sugar levels and liver enlargement. (wisdompanel.com)
  • von Willebrand's Disease (vWD) type 1 is a clotting disorder that usually causes mild bleeding tendencies in affected dogs though some may have more severe signs. (wisdompanel.com)
  • A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
  • The cause of Glycogen Storage Disease is genetic. (xcode.life)
  • glucose cannot be used as a source of energy and glycogen accumulates because of impaired degradation and/or excess synthesis. (mhmedical.com)
  • The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. (nih.gov)
  • As we need to conserve some of this energy, these glucose molecules are combined back into glycogen. (xcode.life)
  • Molecular Genetics of Type 1 Glycogen Storage Diseases. (qxmd.com)
  • Kieffer DA, Medici V. Wilson disease: at the crossroads between genetics and epigenetics-A review of the evidence. (medscape.com)
  • It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. (qxmd.com)
  • Pompe disease). (medscape.com)
  • Enzyme replacement therapies are available for all age groups (ie, infantile [early onset] or late onset [juvenile/adult]) affected by Pompe disease. (medscape.com)
  • Replaces rhGAA, which is deficient or lacking in persons with Pompe disease. (medscape.com)
  • Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease compared with untreated historical controls. (medscape.com)
  • It has not been adequately studied for treatment of other forms of Pompe disease. (medscape.com)
  • Lumizyme is indicated for infantile-onset Pompe disease and also for late (non-infantile) Pompe disease. (medscape.com)
  • Indicated for treatment of patients aged 1 year and older with late-onset Pompe disease. (medscape.com)
  • Indicated in combination with miglustat (Opfolda) for adults with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) who weigh ≥40 kg and are not improving on their current enzyme replacement therapy (ERT). (medscape.com)
  • A French multicenter Phase 4 open label extension study of long -term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France. (institut-myologie.org)
  • D. Lysosomal α-1,4-glucosidase deficiency is most commonly associated with Pompe disease (type II). (boardvitals.com)
  • Pompe disease predominantly presents with cardiomyopathy along with other systemic findings (e.g., liver, kidneys, etc. (boardvitals.com)
  • Pompe disease generally results in death by 2 years of age. (boardvitals.com)
  • GSD II (Pompe disease) is now part of the newborn screening panel in many states in the US. (msdmanuals.com)
  • to investigate nursing team knowledge and practices regarding care for children with Pompe disease in intensive care. (bvsalud.org)
  • Pompe Disease (PD) was discovered in 1932 by pathologist Joannes Cassianus Pompe, during the autopsy of a seven-month-old child who died from idiopathic myocardial hypertrophy. (bvsalud.org)
  • Metabolic disease may present in a fulminate fashion to the pediatric intensivist with profound biochemical disturbances, encephalopathy and even cardiac failure. (springer.com)
  • The von Gierke disease (GSD type Ia, glucose-6-phosphatase deficiency) causes clinically significant end-organ disease with substantial morbidity. (medscape.com)
  • Cori disease is inherited in an autosomal recessive manner and is a milder form of type I (Von Gierke disease). (boardvitals.com)
  • Glycogen storage disease type I: von Gierke disease [ Internet ]. (autopsyandcasereports.org)
  • A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen , which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. (wikidoc.org)
  • Glycogen breakdown is highly regulated in the body, especially in the liver , by various hormones including insulin and glucagon , to maintain a homeostatic balance of blood-glucose levels. (wikidoc.org)
  • GSD type XI (GSD 11): Fanconi-Bickel syndrome (GLUT2 deficiency), hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease, but a defect of glucose transport. (wikipedia.org)
  • Congenital heart diseases (12), asthma (11), chronic lung disease (4), tracheobronchial stenosis (2), and laryngo-tracheo-bronchomalacia (2). (cdc.gov)
  • The glycogen accumulates in several organs, such as liver and kidneys [ 4 , 5 ], and the disease leads to systemic and intraoral manifestations. (opendentistryjournal.com)
  • To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases. (globalgenes.org)
  • Specific medical therapies may be applied to many liver diseases in an effort to diminish symptoms and to prevent or forestall the development of cirrhosis. (medscape.com)
  • American Association for Study of Liver Diseases (AASLD). (medscape.com)
  • More than 900 children and teens with a wide range of liver diseases, from acute hepatitis to a chronic liver disease that may require transplant, are receiving ongoing care in our clinics. (childrensmercy.org)
  • It binds to mannose-6-phosphate receptors and then is transported into lysosomes, then undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. (medscape.com)
  • Children with this type develop a form of liver disease called cirrhosis that often is irreversible. (medlineplus.gov)
  • Over the past 18 months we have worked closely with doctors, researchers, drug developers, policy makers and other rare disease organizations to get a better understanding of how we move the needle forward for GSD1b care and new treatments. (curegsd1b.org)
  • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services. (globalgenes.org)
  • Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. (globalgenes.org)
  • To test this hypothesis, plasma serotonin concentrations were prospectively measured in 13 patients with type-Ia glycogen-storage disease, one patient with severe pulmonary hypertension and type-Ia glycogen-storage disease, 16 patients displaying severe pulmonary arterial hypertension, and 26 normal healthy controls. (lincoln.ac.uk)
  • Other individuals have a multitude of the most severe symptoms of end-stage liver disease and a limited chance for survival. (medscape.com)
  • Some severe diseases, such as many of the lipid storage diseases, currently have no effective therapy. (newworldencyclopedia.org)
  • Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. (medscape.com)
  • Different parts of the muscles and the liver act as storage units for glycogen. (xcode.life)
  • Fatigue develops when the glycogen supply is exhausted. (medscape.com)
  • Gordon N. Classic diseases revisited: carbohydrate-deficient glycoprotein syndromes. (springer.com)
  • Patients with glycogen storage disease type I are unable to release glucose from glycogen. (lu.se)