Fabry's disease

Fabry's disease (syndrome)

[fah´brēz] a sphingolipidosis" >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

单词	fabry's disease
释义	DictionarySeedisease Fabry's disease Fabry's disease (syndrome) [fah´brēz] a sphingolipidosis" >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
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