Fabry's disease

(redirected from Ceramide trihexosidase deficiency)

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

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