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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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
Fabry's diseaseAlpha-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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.