USMLE Step 1


Lysosomal Storage Diseases

Fabry Disease
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Fabry Disease USMLE

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Fabry Disease is an X-linked recessive lysosomal storage disease that is caused by a deficiency of α-galactosidase A.

This leads to a build-up of the sphingolipid ceramide trihexoside. The accumulation of ceramide trihexoside in blood vessels and other organs leads to the clinical findings seen in Fabry disease. Patients may present with peripheral neuropathy, paresethesia, angiokeratomas, and dry skin/hypohidrosis. Late complications of Fabry disease include heart failure and glomerulonephropathy /renal failure.

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