Inborn error of glycosphingolipid metabolism (deficiency of ⍺-galactosidase A)

Aetiology

• X-linked lysosomal storage disease
• Affects kidneys, liver, lungs, erythrocytes

Clinical features

• Renal failure
• Cutaneous - angiokeratomas
• Cardiac - cardiomyopathy, valvular disease
• Neuro - stroke, acroparaesthesia
• Psychiatric

Investigations

• Bloods: plasma/leukocyte ⍺-GAL activity
• Renal biopsy
• Skin biopsy

Management

• Enzyme supplementation - fabryzyme
• Management of complications