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 ?
A case of Fabry's disease with cardiac manifestations is described.
Fabry's disease is characterized by PR interval prolongation and a right bundle branch block pattern seen on the electrocardiogram.
Fabry's disease had been diagnosed years earlier on the basis of skin lesions and a biopsy performed elsewhere.
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