Sphingolipidoses

Question 1

What is Fabry disease?

Answer 1

X-linked lysosomal storage disorder

Deficiency of enzyme a-GAL to cause glycolipid to accumulate.

Present with:

1. Pain - acroparaesthesia
2. Renal involvement - insufficiency
3. Cardiac involvement - ischemia
4. Dermatological involvement - angiokeratomas
5. Ocular manifestations - clouding

Question 2

What is Gaucher’s disease?

Answer 2

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.