What is Fabry disease?
X-linked lysosomal storage disorder
Deficiency of enzyme a-GAL to cause glycolipid to accumulate.
Present with:
- Pain - acroparaesthesia
- Renal involvement - insufficiency
- Cardiac involvement - ischemia
- Dermatological involvement - angiokeratomas
- Ocular manifestations - clouding
What is Gaucher’s disease?
AR. Most common lysosomal storage disease, especially in Ashkenazi Jews.
Congenital deficiency of glucocerebrosidase. (Chr 1) Accumulation of glucosylceremide, especially in macrophages (accumulate in spleen, liver, brain, lung, kidneys, BM)
Type 1 - Non-neuropathic type : Present with massive hepatosplenomegaly and pancytopenia
Type 2 - Acute infantile neuropathic type. Present <6months with hepatosplenomegaly, eye and brain problems, seizures, FTT, hypertonia.
Type 3 - Chronic neuropathic type. Slowly progressive neuropathic symptoms with hepatosplenomegaly.
Dx: Glucocerebroside assay. Mutation studies.
Rx: Avoid splenectomy. Enzyme replacement therapy.
