Fabry Disease

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Alpha-Galactosidase A Deficiency - Fabry's Disease