Robert J. Desnick

All articles by Robert J. Desnick

Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase Deficiency, Fabry's Disease, GLA Deficiency, Hereditary Dystopic Lipidosis)

Are You Confident of the Diagnosis? What you should be alert for in the history Fabry disease is an X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the progressive accumulation of its primary glycolipid substrate, globotriaosylceramide (GL-3). Although GL-3 accumulates in most cell types to varying…

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