Global Journal of Medical and Clinical Case Reports

 

 Case Report

 

Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker 

Fabry disease (FD) is a rare X-linked recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-galactosidase A (α -Gal A). The resulting deficient α -Gal A activity leads to progressive accumulation of glycosphingolipids, predominantly globotriaosylceramide (GL-3) in the lysosomes of many different cell types throughout the body [1]. The manifestations of this complex metabolic disease are progressive and multysistemic, culminating in life-threatening renal, cardiac and cerebrovascular manifestations [2].

http://www.peertechz.com/Clinical-Case-Reports/GJMCCR-1-112.php

 

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