Fabry Disease
alpha-Galactosidase
Trihexosylceramides
Enzyme Replacement Therapy
1-Deoxynojirimycin
alpha-N-Acetylgalactosaminidase
Aphorisms and Proverbs as Topic
Hemizygote
Pulvinar
Glycosphingolipids
Brain Diseases, Metabolic, Inborn
Sphingolipids
Angiokeratoma
Glycolipids
Neutral Glycosphingolipids
Massachusetts
Isoenzymes
Pasteurellosis, Pneumonic
New Zealand
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. (1/381)
Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease. Recently, we generated alpha-Gal A gene knockout mouse lines and described the phenotype of 10-week-old mice. In the present study, we characterize the progression of the disease with aging and explore the effects of bone marrow transplantation (BMT) on the phenotype. Histopathological analysis of alpha-Gal A -/0 mice revealed subclinical lesions in the Kupffer cells in the liver and macrophages in the skin with no gross lesions in the endothelial cells. Gb3 accumulation and pathological lesions in the affected organs increased with age. Treatment with BMT from the wild-type mice resulted in the clearance of accumulated Gb3 in the liver, spleen, and heart with concomitant elevation of alpha-Gal A activity. These findings suggest that BMT may have a potential role in the management of patients with Fabry disease. (+info)Fifteen-year follow-up of a heterozygous Fabry's disease patient associated with pre-excitation syndrome. (2/381)
A 47-year-old woman with heterozygous Fabry's disease with pre-excitation syndrome has been followed up for 15 years. Diagnosis was confirmed by the typical electron microscopic feature of the endomyocardial specimen and a decreased plasma alpha-galactosidase activity. As the disease progressed, the interventricular septum thickened from 11 to 17 mm as measured by echocardiography, while the AH interval was prolonged from 80 to 140 msec. In Fabry's disease, the PR interval has been reported to be variable from short PR to AV block. Therefore, this case may be helpful to understand the time course in the AV conduction abnormalities with the progression of Fabry's disease. (+info)Biopsy-proven cardiomyopathy in heterozygous Fabry's disease. (3/381)
A 23-year-old woman with heterozygous Fabry's disease who had acroparesthesia was admitted to hospital for precise examination of the disease before childbearing. She had no cardiac-related symptoms and no abnormality on physical examination. The alpha-galactosidase A activity in her leukocytes was present, but lower than normal. However, the endomyocardial biopsy showed specific changes for Fabry's disease. As Fabry's disease is a rare X-linked recessive inborn error of glycosphingolipid metabolism, heterozygous females are usually asymptomatic, but rarely can be affected as severely as hemizygous males. This is an isolated case of heterozygous Fabry's disease in a female in whom cardiac involvement was detected by endomyocardial biopsy, although she had no cardiac abnormality on physiological examinations. In conclusion, endomyocardial biopsy is useful for evaluation of the cardiac involvement of Fabry's disease even in an asymptomatic case. (+info)Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. (4/381)
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). This enzymatic defect results in the accumulation of the glycosphingolipid globotriaosylceramide (Gb(3); also referred to as ceramidetrihexoside) throughout the body. To investigate the effects of purified alpha-gal A, 10 patients with Fabry disease received a single i.v. infusion of one of five escalating dose levels of the enzyme. The objectives of this study were: (i) to evaluate the safety of administered alpha-gal A, (ii) to assess the pharmacokinetics of i.v.-administered alpha-gal A in plasma and liver, and (iii) to determine the effect of this replacement enzyme on hepatic, urine sediment and plasma concentrations of Gb(3). alpha-Gal A infusions were well tolerated in all patients. Immunohistochemical staining of liver tissue approximately 2 days after enzyme infusion identified alpha-gal A in several cell types, including sinusoidal endothelial cells, Kupffer cells, and hepatocytes, suggesting diffuse uptake via the mannose 6-phosphate receptor. The tissue half-life in the liver was greater than 24 hr. After the single dose of alpha-gal A, nine of the 10 patients had significantly reduced Gb(3) levels both in the liver and shed renal tubular epithelial cells in the urine sediment. These data demonstrate that single infusions of alpha-gal A prepared from transfected human fibroblasts are both safe and biochemically active in patients with Fabry disease. The degree of substrate reduction seen in the study is potentially clinically significant in view of the fact that Gb(3) burden in Fabry patients increases gradually over decades. Taken together, these results suggest that enzyme replacement is likely to be an effective therapy for patients with this metabolic disorder. (+info)Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. (5/381)
BACKGROUND: Fabry disease is an inherited X-linked disorder resulting in the loss of activity of the lysosomal hydrolase alpha-galactosidase A and causing the clinical manifestations of renal failure, cerebral vascular disease, and myocardial infarction. The phenotypic expression of this disorder is manifest by the accumulation of glycosphingolipids containing alpha-galactosyl linkages, most prominently globotriaosylceramide. METHODS: Based on quantitative structure activity studies, we recently reported two newly designed glucosylceramide synthase inhibitors based on 1-phenyl-2-palmitoylamino-3-pyrrolidino-1-propanol (P4). These inhibitors, 4'-hydroxy-P4 and ethylenedioxy-P4, were evaluated for their ability to deplete globotriaosylceramide and other glucosylceramide-based lipids in Fabry lymphocytes and were compared with N-butyldeoxynojirimycin, another reported glucosylceramide synthase inhibitor. RESULTS: Concentrations as low as 10 nmol/L of 4'-hydroxy-P4 and ethylenedioxy-P4 resulted in 70 and 80% depletion, respectively, of globotriaosylceramide, with maximal depletion occurring at three days of treatment. There was no impairment of cell growth. In contrast, N-butyldeoxynojirimycin only minimally lowered globotriaosylceramide levels, even at concentrations as high as 10 micromol/L. Globotriaosylceramide depletion was confirmed by the loss of binding of FITC-conjugated verotoxin B subunit to the lymphoblasts. CONCLUSIONS: These findings suggest that selective glucosylceramide synthase inhibitors are highly effective in the depletion of globotriaosylceramide from Fabry cell lines. We suggest that these compounds have potential therapeutic utility in the treatment of Fabry disease. (+info)Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (6/381)
BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations. MATERIALS AND METHODS: Genomic DNA was isolated from affected males and/or carrier females from 30 unrelated families with Fabry disease. The entire alpha-Gal A coding region and flanking intronic sequences were analyzed by PCR amplification and automated sequencing. RESULTS: Twenty new mutations were identified, each in a single family: C142R, G183D, S235C, W236L, D244H, P259L, M267I, I289F, Q321E, C378Y, C52X, W277X, IVS4(+4), IVS6(+2), IVS6(-1), 35del13, 256del1, 892ins1, 1176del4, and 1188del1. In the remaining 10 unrelated Fabry families, 9 previously reported mutations were detected: M42V, R112C, S148R, D165V, N215S (in 2 families), Q99X, C142X, R227X, and 1072del3. Haplotype analysis using markers closely flanking the alpha-Gal A gene indicated that the two patients with the N215S lesion were unrelated. The IVS4(+4) mutation was a rare intronic splice site mutation that causes Fabry disease. CONCLUSIONS: These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease. +info)Clinicopathologic analysis of 124 biopsy-proven peripheral nerve diseases. (7/381)
We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and 43 were women. We categorized them into five groups: specific diagnosis (66 cases, 53.2%), axonal degeneration type (47 cases, 37.9%), demyelinating type (4 cases, 3.2%), mixed axonal degeneration-demyelinating type (6 cases, 4.8%) and normal (1 case, 0.9%). Cases with specific diagnosis included 21 inflammatory demyelinating polyneuropathy (15 chronic inflammatory demyelinating polyradiculoneuropathy, 6 Guillain-Barre disease), 13 hereditary motor and sensory neuropathy (7 Charcot-Marie-Tooth type I, 6 Charcot-Marie-Tooth type II), 10 vasculitis, 6 toxic neuropathy, 4 leprosy, 3 diabetic neuropathy, 2 alcoholic neuropathy, 1 Fabry's disease and other specific diseases (5 cases). In our cases, the proportion of specific diagnoses was higher, while the proportion of demyelinating peripheral neuropathies and normal were lower than those of Western series. The results of this study indicate that 1) a dose clinicopathologic correlation is important to make a precise diagnosis of peripheral nerve biopsy, 2) Biopsy under strict indication may reduce unnecessary histologic examination, 3) There is no difference in disease pattern of peripheral neuropathy between Western people and Koreans. (+info)Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. (8/381)
The mutant products Q279E ((279)Gln to Glu) and R301Q ((301)Arg to Gln) of the X-chromosomal inherited alpha-galactosidase (EC 3.2.1. 22) gene, found in unrelated male patients with variant Fabry disease (late-onset cardiac form) were characterized. In contrast to patients with classic Fabry disease, who have no detectable alpha-galactosidase activity, atypical variants have residual enzyme activity. First, the properties of insect cell-derived recombinant enzymes were studied. The K(m) and V(max) values of Q279E, R301Q, and wild-type alpha-galactosidase toward an artificial substrate, 4-methylumbelliferyl-alpha-D-galactopyranoside, were almost the same. In order to mimic intralysosomal conditions, the degradation of the natural substrate, globotriaosylceramide, by the alpha-galactosidases was analyzed in a detergent-free-liposomal system, in the presence of sphingolipid activator protein B (SAP-B, saposin B). Kinetic analysis revealed that there was no difference in the degradative activity between the mutants and wild-type alpha-galactosidase activity toward the natural substrate. Then, immunotitration studies were carried out to determine the amounts of the mutant gene products naturally occurring in cells. Cultured lymphoblasts, L-57 (Q279E) and L-148 (R301Q), from patients with variant Fabry disease, and L-20 (wild-type) from a normal subject were used. The 50% precipitation doses were 7% (L-57) and 10% (L-148) of that for normal lymphoblast L-20, respectively. The residual alpha-galactosidase activity was 3 and 5% of the normal level in L-57 and L-148, respectively. The quantities of immuno cross-reacting materials roughly correlated with the residual alpha-galactosidase activities in lymphoblast cells from the patients. Compared to normal control cells, fibroblast cells from a patient with variant Fabry disease, Q279E mutation, secreted only small amounts of alpha-galactosidase activity even in the presence of 10 mM NH(4)Cl. It is concluded that Q279E and R301Q substitutions do not significantly affect the enzymatic activity, but the mutant protein levels are decreased presumably in the ER of the cells. (+info)Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3 or GL-3), in various tissues and organs throughout the body. The accumulation of these lipids results in progressive damage to multiple organ systems, including the heart, kidneys, nerves, and skin.
The symptoms of Fabry disease can vary widely among affected individuals, but common manifestations include:
1. Pain: Acroparesthesias (burning or tingling sensations) in the hands and feet, episodic pain crises, chronic pain, and neuropathy.
2. Skin: Angiokeratomas (small, red, rough bumps on the skin), hypohidrosis (decreased sweating), and anhydrosis (absent sweating).
3. Gastrointestinal: Abdominal pain, diarrhea, constipation, nausea, and vomiting.
4. Cardiovascular: Left ventricular hypertrophy (enlargement of the heart muscle), cardiomyopathy, ischemic heart disease, arrhythmias, and valvular abnormalities.
5. Renal: Proteinuria (protein in the urine), hematuria (blood in the urine), chronic kidney disease, and end-stage renal disease.
6. Nervous system: Hearing loss, tinnitus, vertigo, stroke, and cognitive decline.
7. Ocular: Corneal opacities, cataracts, and retinal vessel abnormalities.
8. Pulmonary: Chronic cough, bronchial hyperresponsiveness, and restrictive lung disease.
9. Reproductive system: Erectile dysfunction in males and menstrual irregularities in females.
Fabry disease affects both males and females, but the severity of symptoms is generally more pronounced in males due to the X-linked inheritance pattern. Early diagnosis and treatment with enzyme replacement therapy (ERT) or chaperone therapy can help manage the progression of the disease and improve quality of life.
Alpha-galactosidase is an enzyme that breaks down complex carbohydrates, specifically those containing alpha-galactose molecules. This enzyme is found in humans, animals, and microorganisms. In humans, a deficiency of this enzyme can lead to a genetic disorder known as Fabry disease, which is characterized by the accumulation of these complex carbohydrates in various tissues and organs, leading to progressive damage. Alpha-galactosidase is also used as a medication for the treatment of Fabry disease, where it is administered intravenously to help break down the accumulated carbohydrates and alleviate symptoms.
Trihexosylceramides are a type of glycosphingolipids, which are complex lipids found in animal tissues. They consist of a ceramide molecule (a sphingosine and fatty acid) with three hexose sugars attached to it in a specific sequence, typically glucose-galactose-galactose.
Trihexosylceramides are further classified into two types based on the type of ceramide they contain: lactosylceramide (Gal-Glc-Cer) and isoglobotrihexosylceramide (GalNAcβ1-4Galβ1-4Glc-Cer).
These lipids are important components of the cell membrane and play a role in various biological processes, including cell recognition, signal transduction, and cell adhesion. Abnormal accumulation of trihexosylceramides has been implicated in certain diseases, such as Gaucher disease and Tay-Sachs disease, which are caused by deficiencies in enzymes involved in their breakdown.
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.
1-Deoxynojirimycin (DNJ) is an antagonist of the enzyme alpha-glucosidase, which is involved in the digestion of carbohydrates. DNJ is a naturally occurring compound found in some plants, including mulberry leaves and the roots of the African plant Moringa oleifera. It works by binding to the active site of alpha-glucosidase and inhibiting its activity, which can help to slow down the digestion and absorption of carbohydrates in the small intestine. This can help to reduce postprandial glucose levels (the spike in blood sugar that occurs after a meal) and may have potential benefits for the management of diabetes and other metabolic disorders. DNJ is also being studied for its potential anti-cancer effects.
Alpha-N-Acetylgalactosaminidase (also known as alpha-GalNAcase) is an enzyme that belongs to the class of glycoside hydrolases. Its systematic name is N-acetyl-alpha-galactosaminide galactosaminohydrolase. This enzyme is responsible for catalyzing the hydrolysis of the terminal, non-reducing N-acetyl-D-galactosamine residues in gangliosides and glycoproteins.
Gangliosides are sialic acid-containing glycosphingolipids found in animal tissues, especially in the nervous system. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone.
Deficiency or dysfunction of alpha-N-Acetylgalactosaminidase can lead to various genetic disorders, such as Schindler and Kanzaki diseases, which are characterized by the accumulation of gangliosides and glycoproteins in lysosomes, leading to progressive neurological deterioration.
Aphorisms are concise, pithy statements that express a general truth or principle in a clever or memorable way. They often relate to a specific area of knowledge or experience, such as medicine or morality. In the context of medicine, medical aphorisms are sayings or phrases that convey important principles or wisdom related to the practice of medicine. Examples include "First do no harm" (Hippocrates) and "When in doubt, cut it out" (William Stewart Halsted).
Proverbs, on the other hand, are traditional sayings that express a general truth or piece of advice based on common sense or folk wisdom. They often take the form of simple sentences or phrases and may be metaphorical or figurative in nature. Medical proverbs might include sayings like "The patient's own doctor is the best" or "An ounce of prevention is worth a pound of cure."
Together, aphorisms and proverbs can serve as useful tools for medical professionals to remember important principles and practices, as well as communicate complex ideas in a simple and memorable way.
A hemizygote is an individual or a cell that has only one copy of a particular gene, as opposed to the usual two copies (one from each parent) in a diploid organism. This condition typically occurs when the gene is located on a sex chromosome (X or Y). For example, males in humans are hemizygous for all genes located on the X chromosome since they have only one X chromosome and one Y chromosome. If a recessive allele is present on the X chromosome of a male, he will express that trait because there is no corresponding allele to mask its effect. In contrast, females have two X chromosomes and would need to inherit two copies of the recessive allele to express the trait.
The pulvinar is a part of the brain that is located in the thalamus, which is a structure situated deep within the brain. The pulvinar plays a crucial role in visual processing and attention. It is the largest nucleus in the thalamus and is composed of several subdivisions, each with distinct connections to different areas of the cerebral cortex.
The pulvinar receives inputs from various sources, including the retina, superior colliculus, and visual cortex. It then sends outputs to multiple regions of the visual cortex, as well as other parts of the brain involved in attention and awareness. The pulvinar has been shown to modulate the flow of information between different areas of the visual system, allowing for the integration of visual information with other sensory inputs and attentional processes.
Damage to the pulvinar can result in a variety of visual deficits, including impairments in visual attention, object recognition, and motion perception. Additionally, some studies have suggested that the pulvinar may be involved in the regulation of consciousness and arousal.
Glycosphingolipids are a type of complex lipid molecule found in animal cell membranes, particularly in the outer leaflet of the plasma membrane. They consist of a hydrophobic ceramide backbone, which is composed of sphingosine and fatty acids, linked to one or more hydrophilic sugar residues, such as glucose or galactose.
Glycosphingolipids can be further classified into two main groups: neutral glycosphingolipids (which include cerebrosides and gangliosides) and acidic glycosphingolipids (which are primarily gangliosides). Glycosphingolipids play important roles in various cellular processes, including cell recognition, signal transduction, and cell adhesion.
Abnormalities in the metabolism or structure of glycosphingolipids have been implicated in several diseases, such as lysosomal storage disorders (e.g., Gaucher's disease, Fabry's disease) and certain types of cancer (e.g., ganglioside-expressing neuroblastoma).
Metabolic brain diseases are a group of disorders caused by genetic defects that affect the body's metabolism and result in abnormal accumulation of harmful substances in the brain. These conditions are present at birth (inborn) or develop during infancy or early childhood. Examples of metabolic brain diseases that are present at birth include:
1. Phenylketonuria (PKU): A disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to an accumulation of phenylalanine in the brain and can cause intellectual disability, seizures, and behavioral problems if left untreated.
2. Maple syrup urine disease (MSUD): A disorder caused by a deficiency of the enzyme branched-chain ketoacid dehydrogenase, which leads to an accumulation of branched-chain amino acids in the body and can cause intellectual disability, seizures, and metabolic crisis if left untreated.
3. Urea cycle disorders: A group of disorders caused by defects in enzymes that help remove ammonia from the body. Accumulation of ammonia in the blood can lead to brain damage, coma, or death if not treated promptly.
4. Organic acidemias: A group of disorders caused by defects in enzymes that help break down certain amino acids and other organic compounds. These conditions can cause metabolic acidosis, seizures, and developmental delays if left untreated.
Early diagnosis and treatment of these conditions are crucial to prevent irreversible brain damage and other complications. Treatment typically involves dietary restrictions, supplements, and medications to manage the underlying metabolic imbalance. In some cases, enzyme replacement therapy or liver transplantation may be necessary.
Sphingolipids are a class of lipids that contain a sphingosine base, which is a long-chain amino alcohol with an unsaturated bond and an amino group. They are important components of animal cell membranes, particularly in the nervous system. Sphingolipids include ceramides, sphingomyelins, and glycosphingolipids.
Ceramides consist of a sphingosine base linked to a fatty acid through an amide bond. They play important roles in cell signaling, membrane structure, and apoptosis (programmed cell death).
Sphingomyelins are formed when ceramides combine with phosphorylcholine, resulting in the formation of a polar head group. Sphingomyelins are major components of the myelin sheath that surrounds nerve cells and are involved in signal transduction and membrane structure.
Glycosphingolipids contain one or more sugar residues attached to the ceramide backbone, forming complex structures that play important roles in cell recognition, adhesion, and signaling. Abnormalities in sphingolipid metabolism have been linked to various diseases, including neurological disorders, cancer, and cardiovascular disease.
Angiokeratoma is a cutaneous condition characterized by the presence of small, dilated blood vessels (capillaries) in the upper dermis, which are covered by thickened epidermis. These lesions appear as dark red to black papules or plaques on the skin surface. They can occur spontaneously or as a result of an underlying medical condition such as Fabry disease. Angiokeratomas are typically asymptomatic but may occasionally cause mild discomfort or itching. They most commonly affect the lower extremities, particularly the buttocks and genital region, but can also appear on other parts of the body.
Glycolipids are a type of lipid (fat) molecule that contain one or more sugar molecules attached to them. They are important components of cell membranes, where they play a role in cell recognition and signaling. Glycolipids are also found on the surface of some viruses and bacteria, where they can be recognized by the immune system as foreign invaders.
There are several different types of glycolipids, including cerebrosides, gangliosides, and globosides. These molecules differ in the number and type of sugar molecules they contain, as well as the structure of their lipid tails. Glycolipids are synthesized in the endoplasmic reticulum and Golgi apparatus of cells, and they are transported to the cell membrane through vesicles.
Abnormalities in glycolipid metabolism or structure have been implicated in a number of diseases, including certain types of cancer, neurological disorders, and autoimmune diseases. For example, mutations in genes involved in the synthesis of glycolipids can lead to conditions such as Tay-Sachs disease and Gaucher's disease, which are characterized by the accumulation of abnormal glycolipids in cells.
Neutral glycosphingolipids (NGSLs) are a type of glycosphingolipid, which are lipids that contain a ceramide backbone with one or more sugar residues attached. NGSLs are characterized by the absence of charged groups in their carbohydrate moiety. They consist of a core structure of ceramide, to which one or more sugars such as glucose or galactose are attached.
NGSLs can be further classified into two main categories: cerebrosides and globosides. Cerebrosides contain a single sugar residue (monosaccharide) attached to the ceramide backbone, while globosides contain more complex oligosaccharide chains. NGSLs are important components of cell membranes and play a role in various biological processes, including cell recognition, signal transduction, and cell adhesion.
Abnormal accumulation of NGSLs can lead to various genetic disorders known as sphingolipidoses, such as Gaucher's disease, Fabry's disease, and Krabbe's disease. These conditions are characterized by the buildup of lipids in various organs and tissues, leading to progressive damage and dysfunction.
I'm sorry for any confusion, but "Massachusetts" is not a medical term. It is the name of a state located in the northeastern region of the United States. If you have any questions about medical terms or concepts, I would be happy to help clarify those for you.
Isoenzymes, also known as isoforms, are multiple forms of an enzyme that catalyze the same chemical reaction but differ in their amino acid sequence, structure, and/or kinetic properties. They are encoded by different genes or alternative splicing of the same gene. Isoenzymes can be found in various tissues and organs, and they play a crucial role in biological processes such as metabolism, detoxification, and cell signaling. Measurement of isoenzyme levels in body fluids (such as blood) can provide valuable diagnostic information for certain medical conditions, including tissue damage, inflammation, and various diseases.
Pasteurellosis, pneumonic is a specific form of pasteurellosis that is caused by the bacterium *Pasteurella multocida* and primarily affects the respiratory system. It is characterized by inflammation and infection of the lungs (pneumonia) and can result in symptoms such as cough, difficulty breathing, chest pain, fever, and decreased appetite.
This condition often occurs as a secondary infection in animals with underlying respiratory diseases, and it can be transmitted to humans through close contact with infected animals, such as through bites, scratches, or inhalation of respiratory secretions. Pneumonic pasteurellosis is more likely to occur in people who have weakened immune systems due to other health conditions.
Prompt medical treatment with antibiotics is necessary to prevent complications and improve outcomes. The prognosis for pneumonic pasteurellosis depends on the severity of the infection, the patient's overall health, and how quickly they receive appropriate medical care.
I'm sorry for any confusion, but "New Zealand" is not a medical term or concept. It is a country located in the southwestern Pacific Ocean, known for its stunning landscapes, unique wildlife, and as the filming location for the "Lord of the Rings" films. If you have any questions related to medicine or health, I'd be happy to try and help answer those for you!
Fabry disease
X-linked recessive inheritance
Α-Galactosidase
Sweat gland
Johannes Fabry
Galactosidases
Left ventricular hypertrophy
Roscoe Brady
Lysosomal storage disease
John Crowley (biotech executive)
Policlinico San Matteo
Sanofi
Fever
Glucocerebrosidase
Jihlava Hospital
Glycolipid
Robert J. Desnick
William Anderson (collector)
Pharmacological chaperone
Globoside
Globotriaosylceramide
Cornea verticillata
Medical genetics
Sifap
Coronary flow reserve
Cerebroside
Sphingolipidoses
Moss bioreactor
Doctor John (TV series)
Angiokeratoma
Fabry disease - Wikipedia
Fabry disease: MedlinePlus Genetics
Fabry Disease News, Research
Angiokeratoma Corporis Diffusum (Fabry Disease): Background, Pathophysiology, Etiology
Fabry disease | DermNet
Fabry Disease | Mount Sinai - New York
Clinical Mimicry: Fabry Disease Masquerading as Lupus?
Watch: Fabry disease and kidney disease | American Kidney Fund
STL Index for: Fabry disease
A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease...
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious...
Empowering the Rare Disease Community for 20 Years: The Fabry Patient - WICZ
SPECIAL PRESENTATION on Ocular Manifestations of Fabry's Disease
Fabry disease - Getting a Diagnosis - Genetic and Rare Diseases Information Center
Nationwide screening for Fabry disease in unselected stroke patients | Neuroscience Hub
Endocrine and Metabolic Disorders UCLA Clinical Trial | Fabry Disease Registry & Pregnancy Sub-registry | UCLA Health Clinical...
Characterization of the plasma membrane lipid organization in Fabry disease | Eucor FR
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal...
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry | Journal...
Fabry disease (NORD): Video, Anatomy & Definition | Osmosis
Fabry Disease - Children's Health Issues - MSD Manual Consumer Version
Enzymatic Diagnosis of Fabry Disease in Tears Sampled on Filter Paper. Observations in a Series of Non-Treated Patients,...
Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease | BMC Research Notes |...
Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data @...
Ryan Golley, Author at Fabry Disease News
Fabry disease
ESC 365 - Fabry disease - Not too rare to care - The practice
MPS Society | Support for MPS, Fabry and related diseases in the United Kingdom
A Review of Fabry Disease
Fabry Disease - World Stroke Academy
National Fabry Disease Foundation1
- In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource. (thinkgenetic.com)
Enzyme replace11
- Enzyme replacement therapy stabilizes and may slow progression of Fabry disease, with more benefit when started at an early age. (medscape.com)
- Enzyme replacement therapy (ERT) was the goal in treating Fabry Disease, rather than treating disease symptoms and, in 2001, Fabrazyme® was approved in the European Union for patients over 8 years old. (europabio.org)
- Five patients have been able to discontinue standard drugs, which in the case of Fabry is an enzyme replacement therapy that must be taken chronically to control toxin levels. (biopharmadive.com)
- Current approaches to Fabry disease are tailored to specific patients and may include enzyme replacement therapy (ERT), targeted symptom management and medication designed to increase alpha-galactosidase activity. (childrenshospital.org)
- Until now, Fabry disease has been treated with enzyme replacement therapy: Sufferers receive intravenous infusions with the genetically modified enzyme GLA (α-galactosidase A). This is an expensive treatment that also has to be repeated frequently. (bionanonet.com)
- Enzyme replacement therapy can help partially halt or reverse disease progression. (patientworthy.com)
- The protective effects of enzyme replacement therapy (ERT), the milestone in Fabry disease treatment, against globotriaosylceramide (GL-3) accumulation and Fabry disease progression are well known. (univaq.it)
- A report published online November 9 in the New England Journal of Medicine describes in utero enzyme-replacement therapy (ERT) for infantile-onset Pompe disease. (medscape.com)
- 10. The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy. (nih.gov)
- 13. Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. (nih.gov)
- 15. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. (nih.gov)
Treat Fabry disease1
- How do we treat Fabry disease? (childrenshospital.org)
Patients44
- Full-body or localized pain to the extremities (known as acroparesthesia) or gastrointestinal (GI) tract is common in patients with Fabry disease. (wikipedia.org)
- citation needed] Additionally, patients can exhibit Raynaud's disease-like symptoms with neuropathy (in particular, burning extremity pain). (wikipedia.org)
- Screening should be considered in all family members of patients with Fabry disease, young patients with unexplained left ventricular hypertrophy, cerebrovascular disease or unexplained end-stage renal failure requiring dialysis, and patients with multiple renal cysts of unknown aetiology. (medscape.com)
- Canadian research team is the first to use gene therapy to treat patients with Fabry disease Outcomes of adult patients. (hamiltonhealthsciences.ca)
- Adult patients with Fabry disease: what does the cardiologist need to know? (bmj.com)
- Among female carriers, patients may be asymptomatic, have fully expressed Fabry disease , or present with findings in between. (medscape.com)
- Oral migalastat is the first pharmacological chaperone approved for treating patients [aged ≥ 18 years (USA and Canada) or ≥ 16 years in other countries] with Fabry disease who have a migalastat-amenable GLA mutation. (nih.gov)
- To ensure patients' wellbeing and improve the treatment, in 2001, Sanofi Genzyme also launched the largest international database of patients with Fabry disease. (europabio.org)
- The Fabry registry is a global, observational, and voluntary program that monitors the routine outcomes for patients with Fabry disease, irrespective of disease and treatment status. (europabio.org)
- This activity focuses on the early diagnosis of Fabry disease, the burden specifically for female patients, and the overall improvement in outcomes and treatment response for all patients with Fabry disease. (francefoundation.com)
- Get quality activities, articles, & videos to improve your care of patients with Fabry Disease. (francefoundation.com)
- Sangamo Therapeutics is continuing to enroll and treat patients with a rare genetic condition called Fabry disease in an early clinical trial of a gene therapy it is developing, announcing Tuesday updated results from the first 11 study participants. (biopharmadive.com)
- although the disease is uncommon, it is thought to be underdiagnosed among patients with cryptogenic stroke. (medscape.com)
- Fabry disease revisited: Management and treatment recommendations for adult patients. (thinkgenetic.com)
- Thanks to gene therapy, several patients with Fabry disease can now forgo their bi-weekly injections. (gilmorehealth.com)
- It is a real revolution for these patients, to be celebrated on Rare Disease Day on February 29 - or February 28 in non-leap years. (gilmorehealth.com)
- Being one of the first people in the world to receive this treatment and seeing how much better I felt afterward definitely gives me hope that it can help many other patients with Fabry disease and possibly those suffering from other diseases with just one genetic mutation," Ryan Deveau, one of the five patients to receive the new gene therapy, said in a statement. (gilmorehealth.com)
- Patients with Fabry disease may present with a spectrum of clinical manifestations, ranging from a severe classic phenotype in males to asymptomatic disease in some females, with a variety of clinical presentations in between. (chl.co.nz)
- All patients in Canada who are known to have Fabry disease or who may have Fabry disease based on a positive family history are encouraged to see a family physician for a referral to the appropriate Canadian Fabry Disease Initiative centre. (the-cfdi.ca)
- This treatment is injected into patients every 15 days to replenish the deficit levels of this enzyme and stop the progression of the disease. (vallhebron.com)
- Vall d'Hebron is a reference centre for metabolic diseases and offers multidisciplinary care to patients with Fabry disease. (vallhebron.com)
- The research group Drug Delivery and Targeting of CIBBIM-Nanomedicine at VHIR is immersed in the Smart4Fabry project to improve the treatment of patients with Fabry disease. (vallhebron.com)
- To evaluate clinical manifestations and outcomes of Fabry disease (FD) in adult patients in the Russian population. (clinpharm-journal.ru)
- In a retrospective cohort study, we recruited consecutive adult patients with established FD and evaluated the following outcomes: end-stage renal disease (ESRD) requiring renal replacement therapy (dialysis or kidney transplantation), clinically significant arrhythmias, chronic heart failure, stroke, and death. (clinpharm-journal.ru)
- The aim of this study was to prove, that these deposits can be shown in the skin of patients with FD via immunofluorescence, that Gb3 deposits can be quantified, that patients with FD have more Gb3-deposits in their skin than healthy controls and that the amount of Gb3 deposits in skin correlates with disease severity. (uni-wuerzburg.de)
- 84 patients were prospectively recruited in the Würzburg Fabry Center for Interdisciplinary Therapy as well as 27 healthy controls. (uni-wuerzburg.de)
- Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. (urosario.edu.co)
- Recently, Jack helped coordinate a Patient-Focused Drug Development meeting with the US Food and Drug Administration, where he and others affected by Fabry disease talked to agency officials about their experiences as patients and how treatment needs to improve. (patientworthy.com)
- However, not all patients respond well to it and there is still a significant unmet need for Fabry disease. (patientworthy.com)
- Jack believes that the most important factors for patients are the day to day challenges of the disease, such as fatigue, inability to sweat, digestive issues, and chronic, burning pain. (patientworthy.com)
- 26 years ago, Jack decided to start a support and advocacy organization for patients called Fabry Support & Information Group (FSIG) . (patientworthy.com)
- As a result, affected patients manifest with an increased risk of developing ischemic stroke, peripheral neuropathy, cardiac dysfunction, and chronic kidney disease. (univaq.it)
- Our findings show that agalsidase-β administration can improve vascular function in patients suffering from Fabry disease. (univaq.it)
- We have shared with the FDA the totality of the most up to date clinical activity and safety data already generated from INGLAXA trials, as of August 2023, and look forward to progressing this critical work on behalf of all patients with Fabry disease," said David Kirn, co-founder and CEO of 4DMT. (globalgenes.org)
- The product candidate is designed to generate high local levels of AGA directly within heart tissue, as well as other affected organs, with the goal of reversing the cardiomyopathy in Fabry patients. (globalgenes.org)
- Patients with these diseases "are ideal candidates for prenatal therapy because organ damage starts in utero," the researchers said. (medscape.com)
- UCSF has received US Food and Drug Administration approval to treat Pompe disease and several other lysosomal storage disorders in utero as part of a phase 1 clinical trial with 10 patients. (medscape.com)
- Patients with Pompe disease might typically be diagnosed clinically at age 3-6 months, study coauthor Paul Harmatz, MD, with UCSF, said. (medscape.com)
- Dermatologic manifestations of renal disease are not uncommon findings in patients with end-stage renal disease (ESRD). (medscape.com)
- A high prevalence of cutaneous disorders is expected, because most patients with ESRD have an underlying disease process with cutaneous manifestations. (medscape.com)
- Many cutaneous disorders experienced by patients undergoing dialysis have little to do with the uremic syndrome and are related to the same underlying pathologic process that caused the renal disease. (medscape.com)
- 6. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. (nih.gov)
- 19. [Evaluation of patients with Fabry disease in Argentina]. (nih.gov)
- Treatment is indicated for patients with an amenable GLA variant that is interpreted by a clinical genetics professional as causing Fabry disease (pathogenic, likely pathogenic) in the clinical context of the patient. (nih.gov)
Globotriaosylceramide11
- Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. (medlineplus.gov)
- We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in α-galactosidase A (α-gal A) knockout mice, a model of Fabry disease. (jci.org)
- Fabry disease, also known as angiokeratoma corporis diffusum, ceramide trihexosidosis or Anderson-Fabry disease, is the most prevalent lysosomal storage disorder that results from the buildup of globotriaosylceramide, a particular type of fat, in the body's cells. (panfoundation.org)
- Fabry's Disease or alpha galactosidase-A deficiency is a rare inherited disorder, as a result of the buildup of particular type of fat, namely globotriaosylceramide inside the body's cells. (alliedmarketresearch.com)
- Fabry disease is additionally diagnosed if an atypical accumulation of a particular fatty matter globotriaosylceramide is noticed on the cellular level in the human body. (medgadget.com)
- The genetic fault behind the disease affects the function of an enzyme called alpha-galactosidase A (alpha-GAL) that help processes a lipid called globotriaosylceramide (GL-3). (europabio.org)
- The compounds that build up in the body with Fabry disease are called globotriaosylceramide (GL-3) and lyso-globotriaosylceramide (lyso-GL3). (thinkgenetic.com)
- Fabry disease is an inherited X-linked disorder which results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. (chl.co.nz)
- Fabry disease (FD) is an X-chromosomally linked disease which leads to deposits of globotriaosylceramide 3 (Gb3) in several tissues. (uni-wuerzburg.de)
- Fabry is an X-linked disorder of glycosphingolipid metabolism that is caused by variants of the GLA gene that codes for α-galactosidase A, leading to lysosomal accumulation of globotriaosylceramide in many cell types. (univaq.it)
- Affecting more than 50,000 people in the United States and European Union, Fabry disease is a genetic disorder of the GLA gene that results in the body's inability to produce AGA, causing accumulation of the substrate globotriaosylceramide (Gb3) in critical organs, including the heart, kidney, and blood vessels. (globalgenes.org)
Learn more about Fabry disease1
- Consider participating in a clinical trial so clinicians and scientists can learn more about Fabry disease and related disorders. (nih.gov)
Females17
- Although an enzyme assay test measuring the activity of alpha-GAL can diagnose Fabry disease in males, diagnosis is usually made by genetic testing in both males and females. (nih.gov)
- Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females. (wikipedia.org)
- However, due to variations and random inactivation of the X chromosome, females tend to have more severe disease. (medscape.com)
- Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. (medlineplus.gov)
- The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives. (medlineplus.gov)
- A small percentage of females who carry a variant in one copy of the GLA gene never develop signs and symptoms of Fabry disease. (medlineplus.gov)
- Natural history of Fabry disease in females in the Fabry Outcome Survey. (medlineplus.gov)
- Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. (medscape.com)
- Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. (medscape.com)
- Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. (nih.gov)
- Asymptomatic corneal dystrophy is an indication of the carrier state and occurs in approximately 70% of females with the disease. (medscape.com)
- Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities. (msdmanuals.com)
- In females, who have two X chromosomes, a defective copy of the GLA gene on both of their X chromosomes will manifest as Fabry disease. (childrenshospital.org)
- The combination of a typical GLA gene on one X chromosome and a mutated GLA gene on the other X chromosome in females may result in less severe symptoms of Fabry disease. (childrenshospital.org)
- Because the gene is linked to the X chromosome, of which only females have a second copy, males are more affected by the disease, so that their life expectancy without treatment is only 58 years, compared to 75 years for females. (gilmorehealth.com)
- 18. Ultrastructural study of renal involvement in two females with Anderson-Fabry disease. (nih.gov)
- The disease affects males and females equally. (nih.gov)
Forms of Fabry disease2
- Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys. (nih.gov)
- Variants that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that typically affect only the heart, kidneys, or blood vessels in the brain. (medlineplus.gov)
Course of Fabry disease2
- Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. (medscape.com)
- They would benefit from a prospective design and a specific investigation into the effects of ERT in women and on the use of ERT early in the course of Fabry disease to halt organ damage before it starts. (medscape.com)
People with Fabry disease5
- Enzyme replacement can reduce lipid storage, ease pain, and preserve organ function in some people with Fabry disease. (nih.gov)
- Anti-platelet medications can help prevent strokes and medications that lower blood pressure can slow the decline of kidney function in people with Fabry disease. (nih.gov)
- How can I or my loved one help improve care for people with Fabry disease? (nih.gov)
- People with Fabry disease can have their life expectancy reduced by 15-20 years. (europabio.org)
- Many people with Fabry disease are given a symptom-specific diagnosis or a misdiagnosis until an eye finding, a kidney biopsy, or a family member is diagnosed with Fabry disease leading to the right diagnosis. (thinkgenetic.com)
Adults with Fabry disease2
- The U.S. Food and Drug Administration (FDA) has approved migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation. (nih.gov)
- Depression in adults with Fabry disease: a common and under-diagnosed problem. (medscape.com)
Patient with Fabry disease1
- 17. Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease. (nih.gov)
Manifestations of Fabry disease2
- Musculoskeletal manifestations of Fabry disease: A retrospective study. (medscape.com)
- [ 51 ] noted that the pulmonary manifestations of Fabry disease respond positively to ERT. (medscape.com)
Causes Fabry disease2
- The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. (wikipedia.org)
- What causes Fabry disease in children? (childrenshospital.org)
Symptoms16
- Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, clusters of small, dark red spots on the skin called angiokeratomas, a decreased ability to sweat (hypohidrosis), cloudiness of the front part of the eye (corneal opacity), and hearing loss. (nih.gov)
- Anderson-Fabry disease is a rare X-linked recessive lysosomal storage disease that may cause a wide range of symptoms affecting multiple systems. (medscape.com)
- However, the disease may not be suspected as many symptoms are shared with other disease processes. (medscape.com)
- The clinician should suspect Fabry disease in any patient with multi-system symptoms varying in age of onset, severity and manner of progression ( Table 2 ). (medscape.com)
- The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. (medlineplus.gov)
- The preeminent driving factor for the Fabry disease treatment market is the recent approval of drugs used in the treatment of Fabry disease and its associated symptoms. (medgadget.com)
- In Fabry, mutations in a gene called GLA lead to low levels of an enzyme that's needed to prevent the buildup of a certain toxin in cells, causing a constellation of symptoms that over time can become severe and life-threatening. (biopharmadive.com)
- In rare cases, a female with one mutated GLA gene may have no signs or symptoms of Fabry disease. (childrenshospital.org)
- What are the symptoms of Fabry disease? (childrenshospital.org)
- Based on the timing of when symptoms begin and the combination of the medical issues, Fabry disease is divided into 2 types: classic Fabry disease and non-classic, also called later-onset, Fabry disease. (thinkgenetic.com)
- Classic Fabry disease symptoms typically begin in childhood and progress to end organ damage in early adulthood. (thinkgenetic.com)
- Nonclassic Fabry disease symptoms usually begin after childhood and can be more variable. (thinkgenetic.com)
- Fabry disease can take a long time to be diagnosed because the symptoms are not very specific and they overlap with other more common diseases, like chronic fatigue syndrome and irritable bowel syndrome. (thinkgenetic.com)
- People may be called hypochondriacs or told symptoms are "all in their head" because many standard lab tests and assessments can't detect Fabry disease. (thinkgenetic.com)
- Available therapies can slow disease progression, but they don't necessarily address all of the symptoms. (patientworthy.com)
- It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
Kidney18
- chronic kidney disease and kidney failure may worsen throughout life. (wikipedia.org)
- End-stage kidney failure in those with Fabry disease typically occurs in the third decade of life, and is a common cause of death due to the disease. (wikipedia.org)
- Kidney failure, or stroke or heart disease occurring early or in the absence of conventional vascular risk factors should direct the physician to take a family history, which may identify other similarly affected relatives with undiagnosed Fabry disease. (medscape.com)
- Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. (medlineplus.gov)
- They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. (medlineplus.gov)
- The National Kidney Foundation conducts research and provides education and support for all people affected by kidney disease. (panfoundation.org)
- Conferring to the studies without treatment, Fabry disease can bring upon complexities such as Kidney disease, Abnormal heart rhythms that is, Arrhythmias, heart enlargement, increased risk of strokes and seizures. (medgadget.com)
- It can then build up in blood vessels and other organs, with a risk of mini-strokes in the brain, heart disease, kidney disease and pain. (europabio.org)
- Fabrazyme is a recombinant human a-GAL A which catalyses the breakdown of GL-3, reducing its amount in the capillary endothelium of the kidney, heart, and skin, delaying or halting the progressive organ damage caused by Fabry disease. (europabio.org)
- The progressive endothelial accumulation of glycosphingolipids characteristic of the disease can lead to clinical abnormalities of the skin, eye, kidney, heart, brain, and peripheral nervous system. (medscape.com)
- The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). (lysosomaldiseasenetwork.org)
- As Dr. Guillem Pintos, Clinical Director of Minority Diseases at Vall d'Hebron explains, "Fabry disease is progressively affecting several organs and tissues: mainly heart and kidney, but also the skin, ear and nervous system" . (vallhebron.com)
- The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. (urosario.edu.co)
- For patient education information, see Diabetes Center , Cholesterol Center , and Chronic Kidney Disease . (medscape.com)
- See also Chronic Kidney Disease and Chronic Renal Failure . (medscape.com)
- [ 1 ] Hypertension accounts for approximately 26% of cases, and glomerulonephritis and cystic kidney diseases account for about 16%, although glomerulonephritis is not as prevalent as it was in the past. (medscape.com)
- End-stage kidney disease (ESKD) is a major health problem in the US and other developed countries. (nih.gov)
- In the US, the major causes of ESKD are diabetes, hypertension, glomerulonephritis, and cystic kidney disease (primarily polycystic kidney disease). (nih.gov)
20211
- Fast Five Quiz: Fabry Disease - Medscape - Apr 02, 2021. (medscape.com)
Lysosomal storage d3
- FABRY DISEASE appertains to a more extensive group of disorders called the lysosomal storage disorders. (medgadget.com)
- It, along with Freeline Therapeutics, have the most advanced gene therapies in clinical development for Fabry, which is one of an array of inherited conditions known as lysosomal storage disorders . (biopharmadive.com)
- It is one of about 50 diseases classified as lysosomal storage disorders (LSD), in which a genetic variation disrupts the normal activity of lysosomes in human cells. (childrenshospital.org)
Kidneys3
- Fabry disease, also known as Anderson-Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. (wikipedia.org)
- The metabolic disease leads to deposits in the blood vessels, which subsequently causes changes and damage in various organs such as the heart, lungs, kidneys or the central nervous system. (bionanonet.com)
- Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. (patientworthy.com)
Disorders5
- Consequently, dermatologic manifestations of renal disease may be divided into 3 general categories including: (1) dermatologic manifestations of diseases associated with the development of ESRD, (2) dermatologic manifestations of uremia, and (3) dermatologic disorders associated with renal transplantation. (medscape.com)
- These systemic disorders and the associated renal diseases and cutaneous manifestations are tabulated in Table 1, below. (medscape.com)
- Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
- Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
- Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
Atypical1
- Fabry disease: an atypical presentation. (medscape.com)
Affects8
- In Caucasians, Fabry disease affects between one in 40,000 and one in 117,000 individuals. (medscape.com)
- Fabry disease affects an estimated 1 in 1,000 to 9,000 people. (medlineplus.gov)
- It is a rare disease that affects multiple systems. (panfoundation.org)
- It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. (nih.gov)
- Fabry disease is a rare, inherited disorder that is progressive in nature and affects many of the body's systems. (childrenshospital.org)
- Fabry affects us - but not our ability to smile! (fabryintnetwork.com)
- Fabry disease affects one in every 40,000 births. (gilmorehealth.com)
- Fabry disease is a rare inherited disorder that affects one in 40,000 people. (bionanonet.com)
Vascular7
- and stroke or heart disease in the absence of conventional vascular risk factors. (medscape.com)
- Vascular Endothelial Growth Factor (VEGF-a) in Fabry disease: Association with cutaneous and systemic manifestations with vascular involvement. (medscape.com)
- Manifestation of Fabry disease is the vascular disease, that is the cause of mortality and morbidity in a large number of the population globally. (medgadget.com)
- Death results from renal failure or cardiac or cerebral complications of hypertension or other vascular disease. (msdmanuals.com)
- Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. (medscape.com)
- Since GL-3 also accumulates in the vascular endothelium, we investigated the effects of agalsidase-β, a recombinant human α-Gal enzyme approved for the treatment of Fabry disease. (univaq.it)
- In this study, vascular function and blood pressure in four adult siblings affected by Fabry disease were evaluated upon agalsidase-β. (univaq.it)
Progression2
- 2,3 With disease progression, organs fail and premature death can occur, often from renal failure or a cardiac or cerebrovascular event, typically in the late fifties or sixties. (medscape.com)
- The registry enhances understanding of the variability, progression, and natural history of the disease, optimizes patient care and evaluates the long-term safety and effectiveness of treatment. (europabio.org)
Gene therapy5
- Sangamo and Freeline were previously joined by Avrobio in developing a Fabry gene therapy. (biopharmadive.com)
- Amicus Therapeutics and UniQure also have Fabry gene therapy programs, although Amicus recently had to pivot after plans to spin out its gene therapy business fell apart. (biopharmadive.com)
- Three men with a rare disease, Fabry disease, were able to forgo their twice-weekly intravenous treatment after receiving gene therapy, a Canadian team announced. (gilmorehealth.com)
- Multiple companies are also working on a gene therapy for Fabry disease, making this an interesting time for the community indeed. (patientworthy.com)
- 4D Molecular Therapeutics reported alignment with the U.S. Food and Drug Administration on a plan to lift the clinical hold on the phase 1/2 INGLAXA clinical trial in the United States for the gene therapy 4D-310 for Fabry disease cardiomyopathy. (globalgenes.org)
Migalastat1
- Correction to: Migalastat: A Review in Fabry Disease. (nih.gov)
Inherited disorder of glycosphingolipid metabolism1
- Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. (nih.gov)
Typically4
- The diagnosis of Fabry disease is typically established with a combination of biochemical and molecular genetic testing and/or by family history. (chl.co.nz)
- Babies with infantile-onset disease typically have enlarged hearts and die by age 2 years. (medscape.com)
- One is the nature of the conditions being treated: they are typically rare diseases that are debilitating and often terminal, and many have no other effective treatments. (bcg.com)
- Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)
Metabolic2
- The aim is to develop the basis for a new drug to treat the rare metabolic Fabry disease - a hereditary disease in which organs are damaged because certain substances cannot be broken down in the body. (bionanonet.com)
- Fabry disease is a metabolic disease that is produced by a deficiency of the Lysosomal enzyme Alpha galactosidase. (vallhebron.com)
Complications3
- While effects on other tissue are not so obvious, ERT, when initiated early, seems to prevent cellular damage and disease complications. (medscape.com)
- The supervision over the orphan drugs being strict due to the usage of the therapy over specific population affected from the disease and lesser number of approved drugs due to the associated risks of the complications would help the key leaders gain maximum shares during the forecast period. (alliedmarketresearch.com)
- 9. Anderson-Fabry disease with cerebrovascular complications in two Italian families. (nih.gov)
Adult1
- Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. (medscape.com)
Abstract1
- abstract = "Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). (urosario.edu.co)
Mutations in a gene1
- Pompe disease is caused by mutations in a gene that makes acid alpha-glucosidase. (medscape.com)
Chromosome4
- Since the GLA gene is located on the X chromosome, Fabry disease is inherited in an X-linked manner. (nih.gov)
- In males, who have a single X chromosome in addition to a Y chromosome in each of their cells, a defective copy of the GLA gene is sufficient to cause Fabry disease. (childrenshospital.org)
- In Fabry, the defective gene is located on the 'X' chromosome. (fabryintnetwork.com)
- Fabry disease is caused by pathogenic variants in GLA gene mapped to the long arm (Xq22.1 region) of the X chromosome. (chl.co.nz)
Clinical trials1
- The group was also involved with the first Fabry disease clinical trials and others since then. (patientworthy.com)
Rare Diseases3
- Questions about rare diseases? (nih.gov)
- We help underinsured people with life-threatening, chronic, and rare diseases get the medications and treatments they need by assisting with their out-of-pocket costs and advocating for improved access and affordability. (panfoundation.org)
- It is difficult to compile significant information on rare diseases, given how low patient numbers are. (europabio.org)
Cardiac2
- Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. (isciii.es)
- This study aimed to explore by cardiac magnetic resonance whether myocardial trabecular complexity, quantified by endocardial border fractal analysis, tracks phenotype evolution in Fabry cardiomyopathy. (unicatt.it)
Angiokeratoma2
- Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. (medscape.com)
- What are the characteristic angiokeratoma skin lesions and dermatologic hallmarks associated with Fabry Disease (FD)? (iqanda-cme.com)
Renal disease2
- Because dialysis and transplant centers are required to report specific information regarding each patient diagnosed with end-stage renal disease (ESRD) to the United States Renal Data System (USRDS), data regarding the causes of ESRD are readily available in the Annual Data Report published by the USRDS. (medscape.com)
- 12. Remarkable variability in renal disease in a large Slovenian family with Fabry disease. (nih.gov)
Glycosphingolipid storage2
- Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). (nih.gov)
- Aims Fabry cardiomyopathy is characterized by glycosphingolipid storage and increased myocardial trabeculation has also been demonstrated. (unicatt.it)
Systemic1
- Glomerular diseases can be classified by the injury mechanism or glomerular cell target, by the presence or absence of systemic disease, and by the appearance of nephritic syndrome or nephrotic syndrome. (nih.gov)
Cardiomyopathy3
- Fabry cardiomyopathy is characterised by reduced myocardial contraction, resulting from stiffening of cardiomyocytes, and relaxation velocities at tissue Doppler imaging (TDI). (medscape.com)
- Conclusion Fabry cardiomyopathy is characterized by a progressive increase in Df of endocardial trabeculae together with shortening of T1 values. (unicatt.it)
- Cardiomyopathy is the leading cause of death in the Fabry disease patient population. (globalgenes.org)
Accumulation2
- Fabry disease causes accumulation of waste in the cells and improper disposition of cellular waste results in the cell being dead. (medgadget.com)
- Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(α)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. (ewha.ac.kr)
Late-onset1
- Coker J, Stiles AR, Bali D, Young SP, McDonald MT, El-Gharbawy A. Phenotypic target organ and biomarker variation within a family with late onset Fabry disease . (duke.edu)
Lysosomes2
- In Fabry disease, first described in 1898, GL-3 can accumulate in lysosomes (organelles inside lots of different types of cell throughout the body). (europabio.org)
- Fabry disease is caused by a mutation in a gene called GLA , which provides instructions for making an enzyme known as alpha-galactosidase A. Lysosomes require this enzyme to properly break down large fat molecules inside the body's cells. (childrenshospital.org)
Involvement3
- The Fabry International Network (FIN) association has established the month of April as the "month of Fabry" to raise awareness and educate about this disease, a rare, progressive and with multi-organ involvement pathology. (vallhebron.com)
- Much of the old literature said that women would not suffer, but we know now that about 80 percent of women will have disease involvement…many of them have pretty significant disease. (patientworthy.com)
- 5. Renal involvement in Anderson-Fabry disease. (nih.gov)
Body's1
- The disease results from a mutated gene called GLA, which is responsible for the production of an essential enzyme, alpha-galactosidase A. It is used to break down certain fats in the body's cells. (gilmorehealth.com)
Pathogenic variants1
- Fabry disease is caused by certain changes (pathogenic variants, also called genetic changes) in the GLA gene. (nih.gov)
Therapeutics2
- This report provides comprehensive information on the therapeutic development for Fabry Disease, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. (pharmalive.com)
- Recent approvals and new treatment launches, including those of Luxturna for inherited retinal disease (Spark Therapeutics, US approval 2018), Zolgensma for spinal muscular atrophy (Novartis, US approval 2019), and Zynteglo for transfusion-dependent beta-thalassemia (Bluebird Bio, Europe approval 2019), have demonstrated that the theoretical can become actual. (bcg.com)
Stroke1
- Cerebral small vessel disease (SVD) is an important cause of stroke and cognitive impairment among the elderly and is a more frequent cause of stroke in Asia than in the US or Europe. (nih.gov)
Centers2
- Although different Fabry specialists and centers may vary slightly in their test and time schedule. (thinkgenetic.com)
- Centers for Disease Control and Prevention. (cdc.gov)
Variants2
- Fabry disease is caused by variants (also known as mutations) in the GLA gene. (medlineplus.gov)
- GLA gene variants that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. (medlineplus.gov)
Treatment12
- The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking. (wikipedia.org)
- The increase in R&D of the treatment for Fabry's disease would help the industry grow in the coming years. (alliedmarketresearch.com)
- Two FDA-approved and over the years demonstrated treatments are implemented in the United States for Fabry disease treatment. (medgadget.com)
- Besides these two therapies, treatment is fixated on Fabry-associated medical issues such as Medication for neuropathic pain, depression, and decreasing urine protein Levels. (medgadget.com)
- These administered mandates have been a major driving factor for the Fabry treatment market globally. (medgadget.com)
- Research regarding novel therapies for the efficient treatment of Fabry disease are carried out globally. (medgadget.com)
- This is another major driving factor encouraging the global Fabry disease treatment market rise. (medgadget.com)
- Treatment of Fabry disease is enzyme replacement with recombinant alpha-galactosidase A ( agalsidase beta ) combined with supportive measures for fever and pain. (msdmanuals.com)
- This treatment was developed specifically to alleviate Fabry disease, which is estimated to affect one in 40,000 births, theoretically 8750 people in the US. (gilmorehealth.com)
- The successful treatment of Pompe disease in utero for the first time may be the start of a new chapter for fetal therapy, researchers said. (medscape.com)
- 16. [Peripheral neuropathy in Anderson-Fabry disease: its physiology, evaluation and treatment]. (nih.gov)
- Select adults with confirmed Fabry disease who have an amenable GLA variant for treatment with GALAFOLD. (nih.gov)
Mutation2
- We report a case of a male Fabry patient with the pN215S mutation and a generalized disease. (isciii.es)
- Fabry disease occurs when an individual has a disease-causing change (pathogenic variant/mutation) in the GLA gene resulting in the body making too little of a specific enzyme called alpha-galactosidase A or A-gal. (thinkgenetic.com)
Alpha-galactosid1
- Fabry disease (also known as alpha-galactosidase-A deficiency) is an inherited neurological disorder that occurs when the enzyme alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body. (nih.gov)
Fabry's8
- Neurological manifestations in Fabry's disease. (medscape.com)
- The rise in number of the incidences of Fabry's Disease will help the industry grow in the coming years. (alliedmarketresearch.com)
- The report provides a snapshot of the global therapeutic landscape of Fabry's disease. (pharmintel.co.in)
- The report assesses Fabry's disease pipeline based on highest phase of development, type of sponsor, mechanism of action (MoA), route of administration (RoA), and molecule type. (pharmintel.co.in)
- The report reviews Fabry's disease pipeline by companies and universities/research institutes based on information derived from company and industry-specific sources. (pharmintel.co.in)
- The report covers pipeline products based on various stages of development for Fabry's disease ranging from discovery to pre-registration and undisclosed stages. (pharmintel.co.in)
- In Korea, 7 cases of Fabry's disease have been reported. (ewha.ac.kr)
- A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for α-galactosidase. (ewha.ac.kr)