Anderson-fabry disease

A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.

Disease Alternative Name

fabry disease
angiokeratoma corporis diffusum
alpha-galactosidase a deficiency

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