Fabry's disease


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Related to Fabry's disease: Pompe disease

Fabry's disease (syndrome)

 [fah´brēz]
a sphingolipidosis transmitted as an X-linked recessive trait, in which the glycolipid trihexosyl ceramide is deposited in various tissues, especially the kidneys; the deficient enzyme is α-galactosidase A. It is marked by purpuric skin lesions (angiokeratomas), central nervous system symptoms, and death due to progressive renal failure. Called also angiokeratoma corporis diffusum.

Fabry's disease

Fabry's disease

Alpha-galactosidase deficiency, angiokeratoma corporis diffusum Pediatrics An X-linked lysosomal storage disease caused by a defect in trihexosylceramide α-galactosidase Clinical Chronic pain, angiokeratomas, hypohidrosis
References in periodicals archive ?
Most families have private mutations which may explain the variations in clinical presentation of Fabry's disease.
Neurologic symptoms of Fabry's disease often are confused with psychiatric disorders or vague neurologic or pain syndromes
And at the Royal Free Hospital, we are looking at younger stroke patients to see if we can establish what the prevalence of Fabry's disease is in that group," Dr.
Fabry's disease is an X-linked disorder of glycosphingolipid catabolism that results from the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of sympathetic central nervous system, and epithelial cells of renal glomeruli.
Sinai Medical Center in New York City infused the missing enzyme into 29 adults with Fabry's disease.
Most importantly, the report provides valuable insights on the pipeline products within the global Fabry's Disease Therapeutics sector.
1991) An atypical variant of Fabry's disease with manifestations confined to the myocardium.
Examples include albinism, congenital adrenal hyperplasia, erythropoietic protoporphyria, Fabry's disease, familial basal ganglia calcification, G6PD deficiency, Gaucher's disease, hemochromatosis, Huntington's chorea, hyperasparaginism, ichthyosis vulgaris, Kartagener's syndrome, Klinefelter's syndrome (karyotype 47,XXY), metachromatic leukodystrophy, Niemann-Pick disease, phenylketonuria, acute intermittent porphyria, Turner's syndrome, and Wilson's disease.
Safety and efficacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease.
Another patient was successfully treated for cardiac sequelae of Fabry's Disease, and is also no longer considered for heart transplant.