Gaucher disease in South Africa.

Gaucher disease is a relentless progressive multi-systemic disorder caused by deficiency or inadequate function of lysosomal β-glucocerebrosidase. The resultant accumulation of the substrate glucocerebroside causes the organ damage. The classic clinical picture of organomegaly, cytopenia and bone pain or disease should always alert the practitioner and place Gaucher disease into the differential diagnosis. This will result in earlier intervention and minimise the risk of irreversible complications of the disease.