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
Roscoe Brady
Left ventricular hypertrophy
Lysosomal storage disease
Sanofi
Fever
John Crowley (biotech executive)
Policlinico San Matteo
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
People with Fabry disease5
- More than 370 gene mutations have been identified in people with Fabry disease. (medscape.com)
- People with Fabry disease present with burning pain in the hands and feet, and reduced sweating, and angiokeratomas which appear as hard bumps on the skin. (osmosis.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)
- In the absence of appropriate treatment, people with Fabry disease have a life perspective limited to 41 years and a significantly reduced quality of life. (carenity.co.uk)
- Some people with Fabry disease have a mutation in the GLA gene that results in the absence of the enzyme, and they may have a more severe or "classic" form of the disease. (medicalhomeportal.org)
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)
Symptoms26
- citation needed] Additionally, patients can exhibit Raynaud's disease-like symptoms with neuropathy (in particular, burning extremity pain). (wikipedia.org)
- The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. (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)
- Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. (news-medical.net)
- A high index of suspicion for Fabry disease should be noted, especially when angiokeratomas are seen with other earlier symptoms of the disease (acroparesthesia, hypohidrosis, or heat intolerance). (medscape.com)
- Fabry disease causes clusters of angiokeratomas (small, dark red spots on the skin) and many systemic symptoms due to the deposition of globotriaosylceramide (Gb3) in multiple organs. (dermnetnz.org)
- Fabry disease often presents with non-specific symptoms that can be mild and subtle, and it is commonly missed or misdiagnosed, leading to an underestimation of its prevalence [4]. (dermnetnz.org)
- this build-up causes the symptoms of Fabry disease. (mountsinai.org)
- Late-Onset Fabry disease manifests in adulthood and usually lacks the classic symptoms such as acroparasthesias and angiokeratomas, and mainly affects the kidney and the heart. (mountsinai.org)
- The symptoms in females with Classic and Late-Onset Fabry disease (also known as "heterozygotes")vary. (mountsinai.org)
- Females may have mild symptoms of the disease or the disease may present more severe as in males. (mountsinai.org)
- The goal of treatment is to slow disease progression and improve Fabry symptoms. (mountsinai.org)
- To determine the clinical effectiveness and cost-effectiveness of the administration of intravenous enzyme replacement therapy (ERT) to symptomatic patients for the prevention of long-term damage and symptoms in Fabry's disease and in mucopolysaccharidosis type 1 (MPS1). (nih.gov)
- Nonclassic or later-onset Fabry disease doesn't cause the earlier symptoms of pain and gastrointestinal issues in childhood, but some adults develop multiple symptoms as young adults. (osmosis.org)
- Because girls have two X chromosomes, affected girls may have symptoms but do not develop full-blown Fabry disease. (msdmanuals.com)
- 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)
- Due to the rarity of the disease and the multiplicity of symptoms, diagnosis is very difficult. (carenity.co.uk)
- Fabry disease is associated with a wide range of symptoms that generally tend to worsen with age, with the exception of pain, a very important symptom of the disease, which occurs more intensely in childhood. (carenity.co.uk)
- What are the symptoms of Fabry disease? (medicalhomeportal.org)
- Treatment is focused on halting or slowing the progression of the disease and managing symptoms. (medicalhomeportal.org)
- The symptoms of Fabry disease are extremely burdensome, have a negative impact on the quality of life of both patients and their families," said Dr. Nan Chen, Professor of the Department of Nephrology at Ruijin Hospital. (vivabioinnovator.com)
Diagnosis13
- The discovery of this new diagnostic tool has resulted in updated clinical guidelines for the diagnosis and treatment of Fabry disease in Canada. (news-medical.net)
- Clusters or diffuse angiokeratomas first appearing in young adults must alert physicians to a possible diagnosis of Fabry disease. (dermnetnz.org)
- A presentation of Fabry disease may be more common than was previously thought, which has a greater impact on the approach to and diagnosis of this disease in the clinical setting. (hcplive.com)
- The process of getting a rare disease diagnosis can take several years. (nih.gov)
- Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. (uclahealth.org)
- Enzymatic Diagnosis of Fabry Disease in Tears Sampled on Filter Paper. (arvojournals.org)
- We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. (biomedcentral.com)
- At the age of 35, he was referred to our hospital and started dialysis: the unusual finding of left ventricular hypertrophy with a normal ejection fraction and of myocardial fibrosis at the cardiac magnetic resonance suggested a diagnosis of Fabry disease, although there was no apparent family history-so extensive tests were subsequently undertaken. (biomedcentral.com)
- T in exon 6 of the GLA gene, confirming the diagnosis of Fabry disease. (biomedcentral.com)
- For males, a diagnosis of Fabry disease can usually be made based on the results of tests that measure the amount of α-galactosidase A enzyme in the blood. (medicalhomeportal.org)
- HCM-like phenocopies, e.g. the cardiac manifestation of Fabry disease, make differential diagnosis of HCM cases particularly challenging. (hungarica.eu)
- Do all patients with FD have the same propensity to develop Fabry renal disease, and how does the male/female incidence discordance help us make the diagnosis? (iqanda-cme.com)
- Are Female Patients More Overlooked in the Diagnosis of Fabry Disease? (balkanmedicaljournal.org)
Lysosomal storage3
- Fabry disease is one of a group of conditions known as lysosomal storage diseases. (wikipedia.org)
- Need information about MPS, Fabry and other lysosomal storage diseases? (mpssociety.org.uk)
- The Society for Mucopolysaccharide Diseases (MPS Society) is the only registered UK charity providing professional support to individuals and families affected by MPS and related Lysosomal Storage Diseases throughout the UK. (ukkidney.org)
Patients45
- Full-body or localized pain to the extremities (known as acroparesthesia) or gastrointestinal (GI) tract is common in patients with Fabry disease. (wikipedia.org)
- Results of a world-first Canadian pilot study on patients treated with gene therapy for Fabry disease show that the treatment is working and safe. (news-medical.net)
- Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare disorders, announced today the submission to the Comisión Federal para la Protección contra Riesgos Sanitarios in Mexico for Kanuma as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic disease with significant morbidity and early mortality. (news-medical.net)
- A special newly discovered biomarker, "Gb3," potentially related to the survival of heart disease patients, could change the way the country's No. 1 killer is monitored in the future, according to research published in the Feb. 4 edition of the Journal of the American Heart Association. (news-medical.net)
- Persons with Fabry disease who have type AB or B blood also accumulate blood group B glycosphingolipids (those with alpha-galactosyl-terminated residues) and can have more severe Fabry disease (related to greater body substrate mass) than patients with blood group A. This is because these blood groups have two additional terminal alpha-galactosyl moieties. (medscape.com)
- Dermatological manifestations occur in more than 70% of patients with Fabry disease, with a mean age of onset at 17 years [3]. (dermnetnz.org)
- A review of cases of women with heterozygous Fabry disease found that these patients are not just carriers but that they have a significant burden of disease and impaired quality of life. (hcplive.com)
- Thus, the aim of this study was to determine whether ERT in patients with advanced Fabry disease affects progression towards 'hard' clinical end-points in comparison with the natural course of the disease. (nih.gov)
- Despite ERT, clinically meaningful events including sudden cardiac death continue to develop in patients with advanced Fabry disease. (nih.gov)
- In order to be able to demonstrate the full extent of health gain from treatment, it was necessary to review the natural history of untreated patients in each disease in order to try to estimate the health loss prevented. (nih.gov)
- The published information for Fabry's disease tallied with descriptions of a multi-system, life-threatening disorder particularly involving kidney, heart and brain with individual patients exhibiting many manifestations. (nih.gov)
- The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. (uclahealth.org)
- BALANCE is the first study directly comparing pegunigalsidase alfa with agalsidase beta for the treatment of patients with Fabry Disease (FD). (bmj.com)
- Tears samples were taken from the conjunctival sac in: 21 Fabry patients, 3 patients undergoing replacement therapy with agalidase-A (Replagal TM ), and 28 normal controls. (arvojournals.org)
- The mean values obtained from normal controls (n=28) was 40.61 µmoles/l.h.(± 24.99), for Fabry non-treated patients (n=21) the value obtained was 5.25 µmoles/l.h.(± 4.43) and for treated patients (n=3) was 14.61 µmoles/l.h .(± 4.99). (arvojournals.org)
- The determination of AGA activity in patients with Fabry disease with and without treatment, and controls were easy to obtain. (arvojournals.org)
- The clinical management of patients with Fabry disease frequently requires a multidisciplinary approach, including Fabry specialists. (amicuseducation.co.uk)
- Finally, genetic counselling also plays an important role in informing patients as well as supporting patient-relevant aspects of disease management, including psychosocial factors, health-related quality of life and wider questions regarding family planning. (amicuseducation.co.uk)
- The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. (ukkidney.org)
- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients. (ukkidney.org)
- Fabry disease revisited: Management and treatment recommendations for adult patients. (thinkgenetic.com)
- Because of this deficiency of the enzyme alfa-galactosidase A , patients with Fabry disease accumulate a lipid, globotriaosylceramide , also called Gb3. (carenity.co.uk)
- The investigative therapy pegunigalsidase alfa (PRX-102) effectively stabilized kidney function in Fabry disease patients more efficiently than Fabrazyme, according to Phase 3 clinical results. (fabrydiseasenews.com)
- The availability of this data for review by the US Food and Drug Administration, the European Medicines Agency and other regulators is another step forward towards the anticipated approval of PRX-102 as a potentially good alternative for adult Fabry patients in both the regular one mg\kg every two weeks as well as the two mg\kg every four weeks regimen. (medicaldarpan.com)
- The study has enrolled 30 adult patients with Fabry disease, including 24 males and six females, with an average age of around 40.5 years and a standard deviation of about 11.3 years. (medicaldarpan.com)
- We are pleased to announce final results from the BRIGHT phase III clinical trial and would like to thank the study investigators, Fabry disease patients, and their families who dedicated their time and efforts to this significant research," claimed Giacomo Chiesi, who is head of Chiesi Global Rare Diseases. (medicaldarpan.com)
- Based on these data and additional clinical studies, we believe PRX-102 may be an important new treatment option for patients who are currently receiving ERT infusions every two weeks, and we look forward to advancing our work around the world to obtain regulatory approvals as quickly as possible and provide access to the Fabry disease community," he added. (medicaldarpan.com)
- The Fabry Registry is an ongoing observational database that compiles clinical data on patients with FD. (geneticsmr.com)
- We analyzed the Fabry Registry data of patients enrolled in Brazil to characterize the demographic and baseline clinical characteristics of this patient population. (geneticsmr.com)
- Avrobio reported that one year after dosing, the first patient given its experimental ex vivo lentiviral gene therapy in the ongoing phase 2 FABGTi trial in patients with Fabry disease had complete clearance of toxic substrate in a kidney biopsy, the trial's primary efficacy endpoint. (globalgenes.org)
- Fabry patients inherit a deficiency of the α-Galactosidase-A enzyme, which is normally responsible for the breakdown of Gb3. (globalgenes.org)
- New aggregated data across all cardiac measures for the FAB-GT patients show patients continue to exhibit stable cardiac structure and function at 12 months post-gene therapy, which is notable given that people living with Fabry disease often experience progressive left ventricular hypertrophy and fibrosis, leading to reduced cardiac function. (globalgenes.org)
- Additionally, the company is leveraging existing trial sites to potentially expand the pool of patients globally, with four Fabry disease patients from Brazil currently moving through the travel, screening, consent and enrollment process for potential treatment at Avrobio's global center of excellence in Australia. (globalgenes.org)
- Enrollment activities for our Fabry disease trial are accelerating, giving us added confidence in our efforts to meet our goal of having dosed a cumulative 30 patients across all our clinical programs by the end of the year," said Geoff MacKay, president and CEO of Avrobio. (globalgenes.org)
- We thank the patients in our ongoing clinical trials and their families, as well as our investigators and the broader Fabry community, for their ongoing trust and collaboration as we work to advance our investigational therapy in the clinic. (vivabioinnovator.com)
- The opening of our first clinical trial site in China demonstrates our ongoing commitment to Fabry Disease and is an important step in our efforts to provide these patients with a convenient, oral, therapeutic option," said Dr. Pedro Huertas, M.D., Ph.D., Chief Medical Officer of AceLink Therapeutics. (vivabioinnovator.com)
- With this in mind, we are truly excited about our participation in this trial, as we strive to improve the daily lives of patients with Fabry disease. (vivabioinnovator.com)
- Phase 2 clinical studies of AL01211 in patients with Fabry disease are planned to start in 2023. (vivabioinnovator.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)
- Characterization of pre-existing anti-PEG and anti-AGAL antibodies towards PRX-102 in patients with Fabry disease. (bvsalud.org)
- [ 1 ] Surtees et al divided patients with propionic acidemia into two subgroups: those with early onset disease presenting in the first week of life and those with late-onset disease presenting after age 6 weeks. (medscape.com)
- [ 2 ] Patients with late-onset disease usually have permanent neurologic damage. (medscape.com)
- Patients whose disease is diagnosed before birth (from the family history or sibling history) or soon after birth have the best prognosis. (medscape.com)
Clinical7
- What are the clinical features of Fabry disease? (dermnetnz.org)
- Clinical Mimicry: Fabry Disease Masquerading as Lupus? (hcplive.com)
- Furthermore, no or minimal information of the severity and rate of change of clinical manifestations of disease or the impact of ERT on these factors was identified. (nih.gov)
- 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)
- Protalix BioTherapeutics, Inc., a major biopharmaceutical company, and Chiesi Global Rare Diseases, a commercial unit of Chiesi Farmaceutici S.p.A., announced final results from the BRIGHT phase III clinical trial evaluating pegunigalsidase alfa (PRX-102) for the potential treatment of Fabry disease. (medicaldarpan.com)
- Recently on August 10, 2023 at 08:00 AM (ETD) they announced the opening of the first clinical trial site in China for its Phase 2, open‐label study of the safety, pharmacokinetics (PK), pharmacodynamics (PD) and preliminary measures of physiological efficacy of AL01211 in males with classic Fabry disease who have not been previously treated with other Fabry disease therapies. (vivabioinnovator.com)
- The purpose of this article is to integrate renal and cutaneous aspects of disease as well as highlight some important, although frequently underappreciated, clinical or laboratory findings that ally renal and skin diseases. (medscape.com)
Manifestations8
- Manifestations of the disease usually increase in number and severity as an individual ages. (wikipedia.org)
- and cardiac conduction fibers may lead to the myriad other manifestations of the disease. (medscape.com)
- In most men who are carriers, or hemizygotes, the disease develops with severe manifestations beginning in childhood or adolescence. (hcplive.com)
- What follows is a summary of the management options for manifestations of Fabry disease. (amicuseducation.co.uk)
- Ocular manifestations of Fabry disease rarely require treatment. (amicuseducation.co.uk)
- How early in childhood are the renal manifestations present in classic Fabry in males? (iqanda-cme.com)
- 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)
Females11
- 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)
- 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)
- Natural history of Fabry disease in females in the Fabry Outcome Survey. (medlineplus.gov)
- Females are carriers of the disease and have diminished levels of alpha-galactosidase. (medscape.com)
- Owing to random X inactivation, females may present with varying degrees of disease severity. (medscape.com)
- Fabry disease generally affects men and boys more severely and at an earlier age than women and girls because its inheritance is X-linked (the male sex only carries one X chromosome whereas females have two). (dermnetnz.org)
- Fabry disease affects males differently than it does females due to the way it is passed through families (the inheritance), which is called X-linked inheritance. (mountsinai.org)
- Fabry disease affects males and females, and it has two forms: classic and nonclassic/later onset. (osmosis.org)
- Females with Fabry may have normal or near-normal enzyme levels in the blood and still have Fabry disease. (medicalhomeportal.org)
- in contrast to other X-linked diseases, heterozygous females can be as affected as men. (geneticsmr.com)
- What is the "pathologic march" of FD and what is the sequence of target organ deterioration in males with classic disease vs. females? (iqanda-cme.com)
Gene16
- citation needed] Fabry disease is caused by a DNA sequence (gene) that is not functioning as it should. (wikipedia.org)
- A person who inherits this gene does not have enough of a functioning enzyme known as alpha-galactosidase A. The lack of alpha-galactosidase leads to Fabry disease. (wikipedia.org)
- 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)
- The A143T variant of the GLA gene is associated with an increased risk of Fabry cardiomyopathy, according to a new study. (news-medical.net)
- A team of Canadian physicians and researchers is believed to be the first in the world to have used gene therapy to treat a patient with Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten lifespan. (news-medical.net)
- The Fabry disease gene is now known as the GLA gene, which stands for alpha-galactosidase. (medscape.com)
- Nucleoside sequencing of the entire GLA gene has enabled theoretical treatment of Fabry disease using recombinant technology. (medscape.com)
- Fabry disease is caused by a mutation of the alpha-galactosidase A gene ( GLA ) mapped to the long arm of the X chromosome [5]. (dermnetnz.org)
- Men with Fabry disease pass the gene on to all daughters but to none of their sons. (dermnetnz.org)
- Women with Fabry disease have a 50% chance of passing the gene onto their daughters or to their sons. (dermnetnz.org)
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). (muni.cz)
- Fabry disease is a condition caused by mutations within a single gene (GLA) encoding lysosomal enzyme alpha-galactosidase A. Several hundred distinct mutations have been identified to cause the onset of disease. (uni-rostock.de)
- 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)
- Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease typically caused by gene mutations encoding proteins of the cardiac sarcomere. (hungarica.eu)
- Based on the above findings, it is probable that hypertrophic cardiomyopathy was due to the MYBPC3 sarcomere gene mutation and not the cardiac manifestation of Fabry disease in this case. (hungarica.eu)
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? (dermnetnz.org)
Classic Fabry disease1
- Classic Fabry disease usually begins in childhood or teenage years. (mountsinai.org)
Angiokeratoma3
- Angiokeratoma corporis diffusum is the cutaneous hallmark of Fabry disease, an X-linked inherited disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A. Decreased or absent enzyme activity causes uncleaved glycosphingolipids to accumulate in various cell types, particularly in the vascular endothelium, smooth muscle cells, and pericytes, causing ischemia and infarction of tissues. (medscape.com)
- Angiokeratoma corporis diffusum is not unique to Fabry disease and has also been documented in several other rare lysosomal storage disorders such as fucosidosis, sialidosis, GM1 gangliosidosis, galactosialidosis, beta-mannosidosis, Kanzaki disease, and aspartylglucosaminuria. (medscape.com)
- It is also known as Anderson-Fabry disease and angiokeratoma corporis diffusum. (dermnetnz.org)
Agalsidase3
- To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. (uclahealth.org)
- Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. (ukkidney.org)
- The only medication approved specifically for Fabry disease in the United States is agalsidase-beta (Fabrazyme). (medicalhomeportal.org)
Pegunigalsidase alfa1
- PEGylation was implemented in a new enzyme replacement therapy for Fabry disease (FD), pegunigalsidase-alfa (PRX-102). (bvsalud.org)
Males1
- The article "Cluster analysis of kidney function decline among males with Fabry disease in a large United States electronic health records. (quinten-health.com)
Fabry's5
- The results suggested beneficial effects of ERT for Fabry's disease on measures of pain, cardiovascular function and some end-points reflecting neurosensory function. (nih.gov)
- For Fabry's disease, the mean cost per patient (50 kg) treated is around pounds sterling 85,000 per annum in England and Wales. (nih.gov)
- No published evidence reporting an economic evaluation of ERT for Fabry's disease was identified by this review. (nih.gov)
- Real-World Data analysis on Fabry's disease prov. (quinten-health.com)
- Fabry's disease is a rare hereditary metabolic disease caused by insufficient or non-existent activity of the enzyme alfa-galactosidase A . (carenity.co.uk)
20201
- The National Fabry Disease Foundation's virtual Fabry Education Conference is being held on October 3-4, 2020. (lysosomaldiseasenetwork.org)
Deficiency3
- Fabry disease is caused by the deficiency of an enzyme that is then replaced with enzyme replacement therapy. (carenity.co.uk)
- Other names for Fabry disease are Alpha-Galactosidase A Deficiency and Anderson-Fabry Disease. (medicalhomeportal.org)
- Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. (geneticsmr.com)
Registry5
- In addition, 40 subjects from the Fabry Registry, matched for age, sex, chronic kidney disease stage and previous transient ischaemic attack (TIA), served as a comparison group. (nih.gov)
- The event rate was not different between the ERT group and the untreated (natural history) group of the Fabry Registry. (nih.gov)
- be enrolled in the Fabry Registry. (uclahealth.org)
- Exclusion Criteria Fabry Registry: There are no exclusion criteria. (uclahealth.org)
- The Fabry Registry and the Fabry Outcomes Survey are both industry hosted international registries. (ukkidney.org)
OMIM1
- Fabry disease (OMIM 301500) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism that results from deficient or absent lysosomal α -galactosidase A activity due to progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids (galabiosylceramide) in nearly all organ systems. (hindawi.com)
Globotriaosylceramide7
- 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)
- Fabry disease is a genetic condition that results in reduced activity of an enzyme in the body called alpha-galactosidase A (alpha-Gal A). The purpose of alpha-Gal A is to break down a certain lipid, or fatty substance, called globotriaosylceramide (GL-3). (mountsinai.org)
- Légende (seulement en anglais) : Globotriaosylceramide (Gb3) biosynthesis occurs in ER and the Golgi apparatus. (eucor-uni.org)
- The compounds that build up in the body with Fabry disease are called globotriaosylceramide (GL-3) and lyso-globotriaosylceramide (lyso-GL3). (thinkgenetic.com)
- Two virtually identical products have been developed for enzyme replacement therapy for the treatment of Fabry disease, which is a rare and debilitating genetic disease caused by decreased activity of the lysosomal enzyme α-galactosidase A. Lack of this enzyme results in progressive tissue accumulation of globotriaosylceramide (GL-3), resulting in life-threatening renal, cardiac and cerebrovascular complications. (mssm.edu)
- What is the role of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations in the pathology-including, as soluble, circulating mediators-of renal disease in FD? (iqanda-cme.com)
- Fabry disease is an X-linked inherited disease that results from deficient activity of the lysosomal α-Galactosidase-A enzyme resulting in progressive accumulation of abnormal deposits of a fatty substance called globotriaosylceramide (Gb3) in blood vessel walls throughout a person's body. (globalgenes.org)
Alpha galactosidase2
- Fabry disease, or Anderson-Fabry disease, is a rare X-linked hereditary lysosomal storage disorder characterized by deficient enzyme activity of alpha-galactosidase A. This enzyme is a lysosomal hydroxylase that when deficient causes an abnormal systemic accumulation of the glycosphingolipid ceramide trihexoside in various tissue and organs. (hcplive.com)
- Fabry disease is a rare, x-linked lysosomal storage disorder in which an enzyme called alpha-galactosidase A is deficient. (osmosis.org)
Johannes Fabry1
- The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry and the surgeon William Anderson in 1898. (wikipedia.org)
Hereditary2
- Described by Joutel et al , 3 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a Mendelian form of hereditary small-vessel disease and vascular dementia. (bmj.com)
- Familial amyloid polyneuropathy, the hereditary sensory autonomic neuropathies, Fabry disease, and the porphyrias are genetic diseases in which autonomic neuropathy is a common feature. (medscape.com)
Typically3
- 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)
- 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)
- Angiokeratomas in Fabry disease typically appear in childhood or adolescence and present as small red-to-black papules that most commonly affect the bathing trunk area (buttocks, groin, umbilicus, upper thighs), although almost any area of the body can be involved. (medscape.com)
Progression2
- The fragmentary information reviewed in 16 studies relevant to the natural history of MPS1 did not generate a coherent picture of disease progression and could provide little added value to published narrative reviews. (nih.gov)
- Treatment goal is to manage overall disease progression and limit any irreversible damage to lung function. (amicuseducation.co.uk)
Affects2
- Fabry disease affects an estimated 1 in 1,000 to 9,000 people. (medlineplus.gov)
- Fabry disease affects many different parts of the body. (medicalhomeportal.org)
Inheritance2
- Fabry disease follows an X-linked inheritance pattern. (medicalhomeportal.org)
- HSAN I has an autosomal dominant inheritance, and the disease is characterized by distal limb involvement with marked sensory loss, including loss of pain sensation, making affected individuals more susceptible to injury. (medscape.com)
Complications8
- Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. (medlineplus.gov)
- End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life expectancy [ 9 - 11 ]. (hindawi.com)
- Serious and potentially life-threatening complications including kidney damage, heart disease, and stroke [11]. (dermnetnz.org)
- 8 Other articles have cited more and more cases showing that many women are indeed symptomatic at presentation and may have severe disease complications. (hcplive.com)
- Without treatment, Fabry disease complications can include kidney disease, abnormal heart rhythms, heart enlargement, and an increased stroke risk. (osmosis.org)
- However, these individuals also have a higher risk of Fabry-associated complications. (osmosis.org)
- As the disease progresses, it can lead to life-threatening complications, including kidney damage, heart attack, and stroke. (medicalhomeportal.org)
- Renal, cardiovascular, or cerebrovascular complications can limit the lifespan of those with Fabry disease. (medicalhomeportal.org)
Kidneys2
- 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)
- Others may only show signs of Fabry disease in a specific organ - like the heart or the kidneys. (osmosis.org)
Onset2
- The age of onset of Fabry disease can range from the second to the fifth decade of life or later. (dermnetnz.org)
- In order to benefit from all the benefits of enzyme replacement therapy , it is necessary that it be started as soon as possible, even before the onset of Fabry disease symptomatology. (carenity.co.uk)
Renal function1
- Can you summarize the pathophysiology and pathobiology of renal impairment, and associated findings-in particular, albuminuria-on renal function testing, in the setting of Fabry Disease? (iqanda-cme.com)
Adults4
- The U.S. Food and Drug Administration today approved Galafold (migalastat), the first oral medication for the treatment of adults with Fabry disease. (news-medical.net)
- Adults with Fabry disease can develop heart disease, strokes, and kidney failure. (mountsinai.org)
- Honor or remember a loved one today and your impact will be DOUBLED to help children and adults fighting kidney disease. (kidneyfund.org)
- A randomized, double-blind, placebo-controlled, 12-month Phase III study to evaluate the effect of Venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months. (magiccalgary.ca)
Stroke3
- They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. (medlineplus.gov)
- The main outcome was a composite of stroke, end-stage renal disease (ESRD) and death. (nih.gov)
- The index stroke in two carriers of disease-associated variant was ischemic lacunar. (muni.cz)
Treatment7
- 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)
- Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and to improve rare disease education, research, and treatment. (news-medical.net)
- There is an FDA-approved treatment for Fabry disease, which replaces the missing alpha-Gal A enzyme. (mountsinai.org)
- Guidance and text on disease epidemiology, assessments and treatment has been primarily taken from the few key academic references that form the current understanding and expert consensus on Fabry disease. (amicuseducation.co.uk)
- What is the treatment for Fabry disease? (medicalhomeportal.org)
- The trial results indicate that treatment with 2 mg/kg of PRX-102 administered through intravenous (IV) infusion every four weeks was reasonably well-tolerated, and the health effects from Fabry disease were assessed by estimated glomerular filtration rate (eGFR) slope, as well as plasma lyso-Gb3 concentration, were stable. (medicaldarpan.com)
- AL01211 is a novel, oral, non-brain penetrant glucosylceramide synthase (GCS) inhibitor being developed for the treatment of Fabry disease. (vivabioinnovator.com)
Angiokeratomas3
- In Fabry disease, angiokeratomas are caused by the accumulation of Gb3 in the dermal endothelial cells, which leads to bulge and incompetence of the vessel walls [12]. (dermnetnz.org)
- There is no correlation between the severity of the disease and the extent of angiokeratomas [14]. (dermnetnz.org)
- In some people living with Fabry disease , small reddish-purple rashes called angiokeratomas appear around the lower abdomen and "bathing trunk" region of the body . (osmosis.org)
Cardiac2
- In order to prove the cardiac involvement of Fabry disease unequivocally, myocardial biopsy was performed, which did not show histological evidence of Fabry disease. (hungarica.eu)
- Other cardiac disease p. (cdc.gov)
Kidney failure1
- chronic kidney disease and kidney failure may worsen throughout life. (wikipedia.org)
Dialysis2
- The large bullae are consistent with either porphyria cutanea tarda or the bullous disease of dialysis. (medscape.com)
- 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)
Unmet needs2
- Help us to understand unmet needs in Fabry disease and gather the data that will allow us to work with our life-science industry to co-create effective and innovative solutions. (mpssociety.org.uk)
- Founded in 2018, AceLink Therapeutics is an innovative biopharma startup focusing on developing safe and effective medicines to address genetic diseases with high unmet needs. (vivabioinnovator.com)
Centers4
- Although different Fabry specialists and centers may vary slightly in their test and time schedule. (thinkgenetic.com)
- As per the data published by Centers for Disease Control and Prevention (CDC) in. (rootsanalysis.com)
- Centers for Disease Control and Prevention. (cdc.gov)
- Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
Accumulate1
- Fabry cells also accumulate lyso-Gb3 (globotriaosylsphingosine), an unusual lipid. (eucor-uni.org)
Accumulation1
- GCS inhibitors reduce the synthesis of glycosphingolipids, thereby exerting beneficial effects to diseases such as Fabry and Gaucher diseases, which are caused by the accumulation of these lipids. (vivabioinnovator.com)
Clinicians2
- the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses. (wikipedia.org)
- 2,3 In this article, we report on a case that reminds clinicians of the propensity of Fabry female heterozygotes to have significant renal morbidity and the idea that Fabry disease may masquerade as SLE. (hcplive.com)
Mutation2
- In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. (biomedcentral.com)
- Others with Fabry disease may have a mutation that results in a decreased amount of the enzyme or a form of the enzyme that does not work as well. (medicalhomeportal.org)
Peripheral1
- Peripheral vascular disease* r. (cdc.gov)
Rare inherited1
- Fabry disease is a rare inherited lysosomal storage disorder [1]. (dermnetnz.org)