Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type I
Glycogen Storage Disease Type III
Glycogen Storage Disease
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type II
Glycogen Storage Disease Type VII
Glucose-6-Phosphatase
Glycogen Storage Disease Type VI
Glycogen
alpha-Glucosidases
Glycogen Debranching Enzyme System
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VIII
Glucan 1,4-alpha-Glucosidase
Antiporters
Glucose-6-Phosphate
1,4-alpha-Glucan Branching Enzyme
Fructose-1,6-Diphosphatase Deficiency
Enzyme Replacement Therapy
Monosaccharide Transport Proteins
Lysosomal Storage Diseases
Glycogen Synthase
Hypoglycemia
Starch
Liver
Sodium-Phosphate Cotransporter Proteins, Type IIb
Dependovirus
Genetic Therapy
Polymorphism, Single-Stranded Conformational
Uric Acid
Enterocolitis
Cholesterol Ester Storage Disease
Exons
Mutation
von Willebrand Diseases
von Willebrand Factor
Hemorrhagic Disorders
von Willebrand Disease, Type 2
von Willebrand Disease, Type 1
von Willebrand Disease, Type 3
Ristocetin
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (1/18)
BACKGROUND: Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease. In this study we investigated the frequency of LAMP2 mutations in an unselected pediatric HCM population. METHODS AND RESULTS: LAMP2 was amplified from genomic DNA isolated from peripheral lymphocytes of 50 patients diagnosed with HCM and analyzed by direct DNA sequencing. In 2 of the 50 probands (4%), nonsense mutations were identified. In 1 family the proband initially presented with HCM as a teenager, which progressed to dilated cardiomyopathy (DCM) and heart failure. Skeletal myopathy and WPW were also noted. The teenage sister of the proband is a carrier of the same LAMP2 mutation and has HCM without skeletal myopathy or WPW. The other proband presented with HCM, WPW, and skeletal myopathy as a teenager, whereas his carrier mother developed DCM during her 40s. Skeletal and cardiac muscle sections revealed the absence of LAMP-2 on immunohistochemical staining. CONCLUSIONS: LAMP2 mutations may account for a significant proportion of cases of HCM in children, especially when skeletal myopathy and/or WPW is present, suggesting that Danon disease is an underrecognized entity in the pediatric cardiology community. (+info)Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (2/18)
Danon disease, an X-linked dominant disorder, results from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene and presents with hypertrophic cardiomyopathy, skeletal myopathy, and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of nine unrelated patients with hypertrophic cardiomyopathy and vacuolar myopathy. We identified three novel families (including one affected mother) with unreported LAMP2 gene null mutations and LAMP-2 protein deficiency in skeletal and myocardial muscle, leukocytes, and fibroblasts. LAMP-2 protein deficiency was detectable in various tissues, including leukocytes, explaining the multisystem clinical involvement. Skeletal muscle immunopathology showed that mutant protein was not localized in the Golgi complex, vacuolar membranes expressed sarcolemmal-specific proteins, and the degree of muscle fiber vacuolization correlated with clinical muscle involvement. In our female patient, muscle histopathology and LAMP-2 protein analysis was inconclusive, indicating that diagnosis in females requires mutation identification. The random X-chromosome inactivation found in muscle and leukocytes excluded the possibility that selective involvement of some tissues in females is due to skewed X-chromosome inactivation. Therefore, biochemical analysis of leukocytes might be used for screening in male patients, but genetic screening is required in females. (+info)LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (3/18)
We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda). (+info)A novel vacuolar myopathy with dilated cardiomyopathy. (4/18)
We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda). (+info)Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations. (5/18)
BACKGROUND: PRKAG2 mutations cause glycogen-storage cardiomyopathy, ventricular preexcitation, and conduction system degeneration. A genetic approach that utilizes a binary inducible transgenic system was used to investigate the disease mechanism and to assess preventability and reversibility of disease features in a mouse model of glycogen-storage cardiomyopathy. METHODS AND RESULTS: Transgenic (Tg) mice expressing a human N488I PRKAG2 cDNA under control of the tetracycline-repressible alpha-myosin heavy chain promoter underwent echocardiography, ECG, and in vivo electrophysiology studies. Transgene suppression by tetracycline administration caused a reduction in cardiac glycogen content and was initiated either prenatally (Tg(OFF(E-8 weeks))) or at different time points during life (Tg(OFF(4-16 weeks)), Tg(OFF(8-20 weeks)), and Tg(OFF(>20 weeks))). One group never received tetracycline, expressing transgene throughout life (Tg(ON)). Tg(ON) mice developed cardiac hypertrophy followed by dilatation, ventricular preexcitation involving multiple accessory pathways, and conduction system disease, including sinus and atrioventricular node dysfunction. CONCLUSIONS: Using an externally modifiable transgenic system, cardiomyopathy, cardiac dysfunction, and electrophysiological disorders were demonstrated to be reversible processes in PRKAG2 disease. Transgene suppression during early postnatal development prevented the development of accessory electrical pathways but not cardiomyopathy or conduction system degeneration. Taken together, these data provide insight into mechanisms of cardiac PRKAG2 disease and suggest that glycogen-storage cardiomyopathy can be modulated by lowering glycogen content in the heart. (+info)Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (6/18)
Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). To date, over 20 different mutations in LAMP2 have been identified. Three members of a family, a male proband (18 years old) and 2 sisters (15 and 20 years old) were studied. Their mother had been diagnosed with dilated cardiomyopathy at the age of 39 years, and died from advanced heart failure at the age of 43 years. The proband developed marked concentric hypertrophy at the age of 5 years and DNA analyses revealed a novel hemizygous frameshift mutation (c.573delA) in exon 5. The 2 affected sisters were also heterozygous for the same mutation. Functional analyses of this novel LAMP2 mutation are mandatory. (+info)Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. (7/18)
(+info)Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation. (8/18)
(+info)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.
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 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 (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 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 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 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.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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).
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.
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.
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.
Sodium-phosphate cotransporter proteins, type IIb (NaPi-IIb), are membrane transport proteins found in the kidney's brush border membrane of proximal tubule cells. They play a crucial role in reabsorbing inorganic phosphate from the primary urine back into the bloodstream. These cotransporters facilitate the active transport of phosphate ions (PO4^3-) coupled with sodium ions (Na+) through the cell membrane, using the energy derived from the electrochemical gradient of sodium ions.
Type IIb sodium-phosphate cotransporters are specifically expressed in the kidney and contribute to maintaining phosphate homeostasis in the body. Disorders in NaPi-IIb function can lead to abnormal phosphate levels, which may be associated with various medical conditions such as hypophosphatemia or hyperphosphatemia.
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.
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.
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.
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.
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.
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.
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.
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.
Von Willebrand disease (vWD) is a genetic bleeding disorder caused by deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting. The VWF plays a crucial role in the formation of a stable platelet plug during the process of hemostasis, which helps to stop bleeding.
There are three main types of vWD:
1. Type 1: This is the most common form, characterized by a partial quantitative deficiency of functional VWF. Bleeding symptoms are usually mild.
2. Type 2: In this type, there is a qualitative defect in the VWF protein leading to various subtypes (2A, 2B, 2M, and 2N) with different bleeding patterns. Symptoms can range from mild to severe.
3. Type 3: This is the most severe form of vWD, characterized by a near or complete absence of functional VWF and Factor VIII. Affected individuals have a high risk of spontaneous and severe bleeding episodes.
The clinical manifestations of vWD include easy bruising, prolonged nosebleeds (epistaxis), heavy menstrual periods in women, and excessive bleeding after dental procedures, surgeries, or trauma. The diagnosis is made based on laboratory tests that assess VWF antigen levels, VWF activity, and Factor VIII coagulant activity. Treatment options include desmopressin (DDAVP) to stimulate the release of VWF from endothelial cells, recombinant VWF, or plasma-derived VWF concentrates, and antifibrinolytic agents like tranexamic acid to reduce bleeding.
Von Willebrand factor (vWF) is a large multimeric glycoprotein that plays a crucial role in hemostasis, the process which leads to the cessation of bleeding and the formation of a blood clot. It was named after Erik Adolf von Willebrand, a Finnish physician who first described the disorder associated with its deficiency, known as von Willebrand disease (vWD).
The primary functions of vWF include:
1. Platelet adhesion and aggregation: vWF mediates the initial attachment of platelets to damaged blood vessel walls by binding to exposed collagen fibers and then interacting with glycoprotein Ib (GPIb) receptors on the surface of platelets, facilitating platelet adhesion. Subsequently, vWF also promotes platelet-platelet interactions (aggregation) through its interaction with platelet glycoprotein IIb/IIIa (GPIIb/IIIa) receptors under high shear stress conditions found in areas of turbulent blood flow, such as arterioles and the capillary bed.
2. Transport and stabilization of coagulation factor VIII: vWF serves as a carrier protein for coagulation factor VIII (FVIII), protecting it from proteolytic degradation and maintaining its stability in circulation. This interaction between vWF and FVIII is essential for the proper functioning of the coagulation cascade, particularly in the context of vWD, where impaired FVIII function can lead to bleeding disorders.
3. Wound healing: vWF contributes to wound healing by promoting platelet adhesion and aggregation at the site of injury, which facilitates the formation of a provisional fibrin-based clot that serves as a scaffold for tissue repair and regeneration.
In summary, von Willebrand factor is a vital hemostatic protein involved in platelet adhesion, aggregation, coagulation factor VIII stabilization, and wound healing. Deficiencies or dysfunctions in vWF can lead to bleeding disorders such as von Willebrand disease.
Hemorrhagic disorders are medical conditions characterized by abnormal bleeding due to impaired blood clotting. This can result from deficiencies in coagulation factors, platelet dysfunction, or the use of medications that interfere with normal clotting processes. Examples include hemophilia, von Willebrand disease, and disseminated intravascular coagulation (DIC). Treatment often involves replacing the missing clotting factor or administering medications to help control bleeding.
Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting. There are several types of VWD, and type 2 is further divided into four subtypes (2A, 2B, 2M, and 2N) based on the specific defects in the VWF protein.
Type 2 von Willebrand disease is characterized by qualitative abnormalities in the VWF protein, which affect its ability to function properly. The four subtypes of type 2 VWD are defined as follows:
* Type 2A: This subtype is caused by a decrease in the amount of high molecular weight multimers (HMWM) of VWF, which are essential for effective platelet adhesion and clot formation. The reduction in HMWM leads to a prolonged bleeding time and increased susceptibility to bleeding.
* Type 2B: This subtype is characterized by an increased affinity of VWF for platelets, leading to the formation of large platelet aggregates and a decrease in the amount of circulating VWF. This results in a shortened bleeding time but increased bleeding severity due to the loss of HMWM.
* Type 2M: This subtype is caused by defects in the VWF protein that affect its ability to bind to platelets, leading to a decrease in platelet adhesion and clot formation. The HMWM are present but do not function properly, resulting in a prolonged bleeding time.
* Type 2N: This subtype is characterized by a decreased affinity of VWF for factor VIII, which is necessary for the normal coagulation cascade. This results in a decrease in the half-life of factor VIII and an increased risk of bleeding, particularly during surgery or trauma.
In summary, type 2 von Willebrand disease is a genetic bleeding disorder caused by qualitative abnormalities in the VWF protein, leading to defects in platelet adhesion and clot formation. The four subtypes of type 2 VWD are defined based on specific defects in the VWF protein that affect its ability to bind to platelets, factor VIII, or both.
Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or abnormality of the von Willebrand factor (VWF), a protein involved in blood clotting. Type 1 VWD is the most common form and is characterized by a partial decrease in the amount of functional VWF in the blood, which can lead to prolonged bleeding times after injury or surgery. The symptoms are usually mild to moderate and may include easy bruising, nosebleeds, heavy menstrual periods, and excessive bleeding following dental work or childbirth. Type 1 VWD is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the disorder if one of their parents has it.
Von Willebrand disease (VWD) is a genetic bleeding disorder caused by deficiency or abnormality of the von Willebrand factor (VWF), a protein involved in blood clotting. Type 3 is the most severe form of VWD, characterized by extremely low levels or complete absence of VWF and Factor VIII, another clotting factor. This results in a significant impairment of the primary hemostasis, leading to spontaneous and severe bleeding episodes, including mucocutaneous bleeding (nosebleeds, gum bleeding, skin bruising), gastrointestinal bleeding, joint bleeds, and menorrhagia in women. Type 3 VWD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to have the disease.
Ristocetin is not a medical condition but a type of antibiotic used to treat infections caused by certain Gram-positive bacteria that are resistant to other antibiotics. Ristocetin is an glycopeptide antibiotic, which works by binding to the bacterial cell wall and inhibiting its synthesis, leading to bacterial death. It is not commonly used due to its potential to cause blood disorders, such as thrombocytopenia (low platelet count) and platelet aggregation.
In medical literature, ristocetin is also known for its use in the laboratory setting as a reagent for the platelet function test, called the ristocetin-induced platelet aggregation (RIPA) assay. This test is used to evaluate the ability of platelets to aggregate and form clots in response to ristocetin, which can help diagnose certain bleeding disorders such as Bernard-Soulier syndrome and von Willebrand disease.
Danon disease
List of MeSH codes (C16)
List of MeSH codes (C14)
Glycogen storage disease type II
List of MeSH codes (C10)
Lysosomal storage disease
List of MeSH codes (C18)
Vitamin B6
Skeletal muscle
List of OMIM disorder codes
Danon disease: MedlinePlus Genetics
Danon disease - Wikipedia
Empagliflozin
Sarcoglycanopathies | Harvard Catalyst Profiles | Harvard Catalyst
MeSH Browser
Muscular Dystrophy, Emery-Dreifuss | Profiles RNS
DeCS
Cardiomyopathy, Restrictive | Profiles RNS
Endocardial Fibroelastosis | Profiles RNS
DeCS 2020 - June 23, 2020 version
DeCS 2019 - June 12, 2019 version
DeCS 2017 - July 04, 2017 version
DeCS 2018 - July 31, 2018 version
Pelizaeus-Merzbacher Disease | Profiles RNS
Glycogen Storage Diseases - Pediatrics - MSD Manual Professional Edition
Glycogen Storage Disease Type V | Profiles RNS
Clinical Trials by Condition: G
Etiology
International Classification of Diseases - Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders
Hmbox1 Mouse Gene Details | homeobox containing 1 | International Mouse Phenotyping Consortium
Results for cd07865
Results for cd06619
US Patent for Directed evolution and in vivo panning of virus vectors Patent (Patent # 8,632,764 issued January 21, 2014) -...
Xanthomas: Background, Pathophysiology, Epidemiology
Moderna Expands the Field of mRNA Medicine with Positive Clinical Results Across Cancer, Rare Disease, and Infectious Disease -...
Namespace
QHerit® carrier screening
Erfelijke ziektes - Zoolyx
CLASSIFICATION OF DISEASES AND INJURIES
JCI - Insulin sensitivity: modulation by nutrients and inflammation
Metabolic3
- Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. (wikipedia.org)
- Insulin resistance is a major metabolic feature of obesity and is a key factor in the etiology of a number of diseases, including type 2 diabetes. (jci.org)
- Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders collectively termed the mucopolysaccharidoses (MPSs). (medscape.com)
Deficiency4
- Von Willebrand disease (vWD) is a common, inherited, genetically and clinically heterogeneous hemorrhagic disorder caused by a deficiency or dysfunction of the protein termed von Willebrand factor (vWF). (medscape.com)
- vWD type I causes a mild to moderate quantitative deficiency of vWF (ie, about 20-50% of normal levels). (medscape.com)
- Familial lipoprotein lipase deficiency is an example of a primary disorder in which a deficiency of lipoprotein lipase in tissue leads to a type I pattern of hyperlipidemia, with a massive accumulation of chylomicrons in the plasma. (medscape.com)
- Familial LDL receptor deficiency and familial defective apoprotein B-100 are examples of primary defects that can lead to the accumulation of LDL, which corresponds to a type IIa pattern of hyperlipidemia. (medscape.com)
Disorders2
- In recent years, the understanding of the genetic and biochemical basis of these disorders has revealed a large and diverse group of diseases, many of which have similar clinical expressions, exposing the limitations of the Fredrickson classification system. (medscape.com)
- Sixteen years later, physicians Binswanger and Ullrich coined the term dysostosis multiplex to describe the constellation of skeletal findings specific to persons with MPS and other lysosomal storage disorders. (medscape.com)
Abnormalities3
- Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities. (medlineplus.gov)
- Symptoms are usually gradually progressive Some individuals may have visual disturbances, and/or retinal pigment abnormalities Danon Disease is rare and unfamiliar to most physicians. (wikipedia.org)
- vWD type II is due to qualitative vWF abnormalities and is subdivided into types IIA, IIB, IIN, and IIM. (medscape.com)
Syndrome10
- The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. (medlineplus.gov)
- Wolff-Parkinson-White syndrome is a common conduction pattern in Danon disease. (wikipedia.org)
- deficiencies of glucose transport protein 2 (Fanconi-Bickel syndrome) mimic the hepatopathy of other GSD types (eg, I, III, IV, VI). (msdmanuals.com)
- When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential . (questwomenshealth.com)
- AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
- The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. (medscape.com)
- Skin eruption as the presenting sign of Hunter syndrome IIB. (medscape.com)
- Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (medscape.com)
- High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). (medscape.com)
- Dodsworth Ch, Burton B K,. Increased incidence of neonatal respiratory distress in infants withmucopolysaccharidosis type II (MPS II, Hunter syndrome). (medscape.com)
Myopathy2
- Skeletal myopathy occurs in most men with Danon disease and about half of affected women. (medlineplus.gov)
- Age of onset, clinical manifestations, and severity vary by type, but symptoms and signs are most commonly those of hypoglycemia and myopathy. (msdmanuals.com)
Diagnosis5
- Making a diagnosis for a genetic or rare disease can often be challenging. (wikipedia.org)
- 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)
- Diagnosis is confirmed by DNA analysis or less commonly by detecting a significant decrease of enzyme activity in liver (types I, III, VI, and VIII/IX), muscle (types IIb, III, VII, and VIII/IX), skin fibroblasts (types IIa and IV), or red blood cells (type VII) or by lack of an increase in venous lactate with forearm activity/ischemia (types V and VII). (msdmanuals.com)
- The diagnosis of many viral diseases Vav1 has historically relied around the detection of antibodies in serum or plasma. (health-ground.com)
- METHODS: The SEARCH for Diabetes in Youth study identified children and young people aged 0-19 years with a physician diagnosis of type 1 or type 2 diabetes at five centres in the USA between 2002 and 2018. (cdc.gov)
Hypertrophic cardiomyopathy1
- Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. (wikipedia.org)
Congenital2
Neuromuscular Diseases2
- Increased CK is predominantly used to diagnose neuromuscular diseases and acute myocardial infarction. (medscape.com)
- CK can also be elevated in the absence of neuromuscular diseases or cardiac injury, such as after strenuous exercise, intramuscular injection, and with renal disease. (medscape.com)
Acute4
- Patients with type I may present in early childhood, often with acute pancreatitis. (medscape.com)
- CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
- OBJECTIVE: To examine the association between diabetes stigma and HbA1c, treatment plan and acute and chronic complications in adolescents and young adults (AYAs) with type 1 or type 2 diabetes. (cdc.gov)
- Independent of HbA1c, higher diabetes stigma scores were associated with some acute complications for AYAs with type 1 diabetes and some chronic complications for AYAs with type 1 or type 2 diabetes. (cdc.gov)
Renal1
- On the other hand, the urinary tetrahydrocortisone/tetrahydrocortisol proportion (THE/THF) was low (0.92, N 1.5), recommending impaired renal 11-hydroxysteroid dehydrogenase type 2 (11HSD2) activity [13]. (research-in-field.com)
Cardiac3
- People with Danon disease are often affected by a specific conduction abnormality known as cardiac preexcitation. (medlineplus.gov)
- A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. (sdsu.edu)
- Trying to guess the examiners' minds from the way this syllabus item is positioned (in the "musculoskeletal" section), we can infer that the detailed anatomy and physiology of cardiac muscle is probably intended for the cardiovascular section , and what they wanted from us here is more of a comparison of the ultrastructural elements that distinguish the three muscle types. (derangedphysiology.com)
Tissues3
- 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)
- For animals, contractile tissues are usually separated into three distinct types, mainly on the basis of their fine structure. (derangedphysiology.com)
- Insulin has a number of actions on fat and lean tissues that favor fat storage and suppress fat burning, and this is the crux of Taubes's basic argument in support of the idea that insulin causes fat accumulation. (blogspot.com)
Glucose3
- 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)
- Glucose is subsequently used for aerobic or anaerobic metabolism, and glycogen provides reserves for moderate exercise. (todaysveterinarypractice.com)
- Short bursts of explosive activity, known as supramaximal exercise , can be sustained only as long as glycogen provides glucose for anaerobic metabolism. (todaysveterinarypractice.com)
Danon-disease18
- Males with Danon disease usually develop the condition earlier than females and are more severely affected. (medlineplus.gov)
- Cardiomyopathy is the most common symptom of Danon disease and occurs in all males with the condition. (medlineplus.gov)
- Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. (medlineplus.gov)
- Most men with Danon disease, but only a small percentage of affected women, have intellectual disability. (medlineplus.gov)
- Danon disease is a rare condition, but the exact prevalence is unknown. (medlineplus.gov)
- Danon disease is caused by mutations in the LAMP2 gene. (medlineplus.gov)
- People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. (medlineplus.gov)
- It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease. (medlineplus.gov)
- Males In males the symptoms of Danon disease are more severe. (wikipedia.org)
- Features of Danon disease in males are:[citation needed] An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) Some learning problems or intellectual disability can be present Muscle weakness can be severe and can affect endurance and the ability to walk Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. (wikipedia.org)
- Common symptoms of Danon disease in females are:[citation needed] A later age of onset of symptoms. (wikipedia.org)
- The milder and more subtle symptoms in females can make it more difficult to diagnose females with Danon Disease Although the genetic cause of Danon disease is known, the mechanism of disease is not well understood. (wikipedia.org)
- Danon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure. (wikipedia.org)
- RP-A501 is an AAV-based gene therapy aimed to restore the LAMP-2 gene which is defective in male patients with Danon Disease and how to cure it. (wikipedia.org)
- Danon disease was characterized by Moris Danon in 1981. (wikipedia.org)
- as published in Al-Bayan newspaper on 20 February 2016 making this family the largest one with patients and carriers of Danon disease. (wikipedia.org)
- Danon disease has overlapping symptoms with another rare genetic condition called 'Pompe' disease. (wikipedia.org)
- Microscopically, muscles from Danon disease patients appear similar to muscles from Pompe disease patients. (wikipedia.org)
Cardiovascular2
- However, lowering LDL levels is a common clinical practice to reduce oxidation and the risk of major events in patients with cardiovascular diseases (CVD). (hindawi.com)
- Cardiovascular diseases (CVD) are the leading cause of mortality in the Western population [ 1 ]. (hindawi.com)
Fibrosis2
- It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis. (sdsu.edu)
- CD16 and CD56 are markers for NK Cells *Rx for Mycoplasma pneumonia (cold agglutinins) mentioned in stem Erythromycin, Tetracycline *Guy had occult blood in stool and fibrosis in kidney Polyarteritis Nodosa *What type of HSN reaction is the PPD test for TB Type IV HSN Rx *ADH hormone 2nd messenger adenylyl cyclase / cAMP *Pt. (pdfcoffee.com)
Clinical trial1
- IIa medical tests for graft vs sponsor disease (trial ID NCT0246651) and alcoholic hepatitis ("type":"clinical-trial","attrs":"text":"NCT 02655510″,"term_id":"NCT02655510″NCT 02655510). (biotech-angels.com)
Disorder1
- The radiation of Metaxas in the type establishments, in disorder, made the Greeks to act a molten aware none. (scrivendi.de)
Liver1
- This LSEC scavenger function has been insufficiently characterized in liver disease. (bvsalud.org)
Hereditary1
- Major glucocorticoid resistance (OMIM 138040) is a uncommon hereditary disease that triggers a generalized partial insensitivity to glucocorticoid action, because of genetic alterations from the glucocorticoid receptor (GR). mutation NR3C1 p.R469[R,X] determined inside a French family with eight affected siblings spanning 3 generations provides unique possibility to research the natural background of GR haploinsufficiency as previously reported in mouse choices [10]. (research-in-field.com)
Hepatic2
- Here, we investigate the effects of two ECM components-Matrigel and type I collagen on hepatic differentiation of human embryonic stem cells (hESCs). (bvsalud.org)
- METHODS: hESC-derived HLCs were generated through multistage differentiation in two-dimensional (2D) and three-dimensional (3D) cultures, incorporating either type I collagen or Matrigel during hepatic specification and maturation. (bvsalud.org)
Detection1
- Moreover this EIA performed with high degrees of sensitivity and specificity compared to the results of NVP-TAE 226 the Centers for Diseases Control and Prevention IgM capture assay considered to be the "platinum standard" for the detection of measles virus-specific IgM (12). (health-ground.com)
Pompe2
- It can be mistaken for other forms of heart disease and/or muscular dystrophies, including Pompe disease. (wikipedia.org)
- GSD II (Pompe disease) is now part of the newborn screening panel in many states in the US. (msdmanuals.com)
Gene2
- The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
- No human diseases associated to this gene by orthology or annotation . (mousephenotype.org)
Willebrand1
- 2 questions on Von Willebrand disease. (pdfcoffee.com)
Skeletal1
- Dr. Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual disability. (wikipedia.org)
Incidence4
- Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. (medscape.com)
- Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. (medscape.com)
- We aimed to describe the incidence of type 1 and type 2 diabetes in children and young people aged younger than 20 years over a 17-year period. (cdc.gov)
- The incidence of target organ damage associated to CVD increases with age, and gender studies show global higher incidence in men for stroke and coronary artery disease (CAD) [ 10 ]. (hindawi.com)
Obesity2
- In particular, we focus on the hypothesis that the macrophage is an important cell type in the propagation of inflammation and induction of insulin resistance in obesity. (jci.org)
- It's the idea, championed by Gary Taubes, that carbohydrate (particularly refined carbohydrate) is the primary cause of common obesity due to its ability to elevate insulin, thereby causing increased fat storage in fat cells. (blogspot.com)
Respiratory1
- With today's positive Phase 3 flu results, along with previous results in COVID and RSV, we are now three for three on advancing respiratory disease programs to positive Phase 3 data," said Stéphane Bancel, Chief Executive Officer of Moderna. (healthstockshub.com)
Subtypes1
- Both severe and non-severe subtypes of the disease have been identified. (nih.gov)
Patients1
- Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy. (medscape.com)
MeSH1
- Pelizaeus-Merzbacher Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
Muscle3
- Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair. (harvard.edu)
- No human disease has been associated with wild-type AAV infection and low toxicity is observed in human subjects following muscle transduction by rAAV (Manno et al. (justia.com)
- Muscles allow dogs to perform activity, and muscle fibers are generally classified as type I (slow twitch) or type II (fast twitch). (todaysveterinarypractice.com)
Diagnose1
- This genetic test does not diagnose a disease. (embarkvet.com)
OMIM1
- The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
Oxidative1
- Atherosclerosis is a chronic vascular inflammatory disease associated to oxidative stress and endothelial dysfunction. (hindawi.com)
Infectious5
- In the near term, we look forward to product launches in our oncology, latent, rare and infectious disease franchises.In the fourth quarter of this year, we also expect to provide data on our next-generation COVID and flu combination, mRNA-1083, and additional efficacy analysis on our Phase 2 INT study. (healthstockshub.com)
- The Company has advanced a diverse pipeline and demonstrated the potential for clinical benefit in cancer ( mRNA-4157 ), in three different rare diseases ( mRNA-3705 , mRNA-3927 , mRNA-3745) , and multiple infectious disease vaccines ( mRNA-1273, mRNA-1345, mRNA-1010 ). (healthstockshub.com)
- The Company expects to double the number of programs in Phase 3 by 2025 and launch up to 15 products in five years across cancer, rare disease, and infectious disease. (healthstockshub.com)
- certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
- The optical densities (ODs) of 216 dried venous blood (DVB) samples submitted to the Victorian Infectious Diseases Reference Laboratory as part of enhanced measles NVP-TAE 226 surveillance were compared to the ODs of the corresponding serum samples collected at the same time. (health-ground.com)