Fabry disease

Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A (associated with GLA mutations), leading to accumulation of globotriaosylceramide (Gb3/GL-3) in various tissues.

Deficient breakdown of glycosphingolipids → progressive deposition in vascular endothelium, renal cells, myocardium, and nervous system → multi-system disease

Features

• burning pain/paraesthesia in childhood - episodic acroparesthesia, hypohidrosis
• Angiokeratoma Corporis Diffusum
  • angiokeratomas are punctuate, dark red, non-blanching macules and papules that classically occur between the umbilicus and the knees
• corneal verticillata (whorled corneal opacities, usually asymptomatic)
• proteinuria
• early cardiovascular disease

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FABRY'S

• Foamy urine Failure to sweat
• Angiokeratomas / Alpha-galactosidase A
• Burning pain
• Renal; proteinuria
• YX (x linked recessive)
• Stroke / Cardiovascular/Ceramide trihexoside accumulation </aside>

Late -> renal failure

Gaucher disease