The Central Nervous System Involvement in Fabry Disease

Abstract excerpt

Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenotypes are the classic severe phenotype and the milder, later onset phenotype. In severe affected males with little or...

Topics

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• Biomedical Research and Pathophysiology
• Lysosomal Storage Disorders Research
• Retinal Diseases and Treatments

Identifiers and source

Literature Corpus work

a0ec9c96-428a-5937-9c8f-ba84a40bc8f5

DOI

10.1177/2326409816661361