Fabry disease

Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and centra...

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Bibliographic Details
Published in:Anais brasileiros de dermatología 2009-07, Vol.84 (4), p.367-376
Main Authors: Boggio, Paula, Luna, Paula Carolina, Abad, María Eugenia, Larralde, Margarita
Format: Article
Language:Portuguese
Subjects:
Fabry Disease - complications
Fabry Disease - diagnosis
Humans
Skin Diseases - etiology
Online Access:Get full text
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Description
Summary:Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.
ISSN:1806-4841
DOI:10.1590/S0365-05962009000400008