Inborn error of glycosphingolipid metabolism (deficiency of ⍺-galactosidase A)
Aetiology
- X-linked lysosomal storage disease
- Affects kidneys, liver, lungs, erythrocytes
Clinical presentation
- Renal failure
- Cutaneous - angiokeratomas
- Cardiac - cardiomyopathy, valvular disease
- Neuro - stroke, acroparaesthesia
- Psychiatric
Investigations
- Plasma/leukocyte ⍺-GAL activity
- Renal biopsy
- Skin biopsy
Management
- Enzyme supplementation - fabryzyme
- Management of complications
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