Maria Shafiq, Ayesha Danish, Hamid Iqbal.
An unusual case of adult type Gaucher’s disease.
J Rawal Med Coll Jan ;17(2):306-7.

Gaucher’s disease is lysosomal storage disorder, autosomal recessive in inheritance. Due to the mutation of glucocerebrosidase gene, there is deficiency of the enzyme glucocerebrosidase responsible for the degradation of sphingolipid , glucocerebroside. Different clinical manifestations appear as a result of accumulation of glucocerebroside laden macrophages in various organs according to the type of disease. It is divided into three types . Type 1 is common in Ashkenzai jews. We report an unusual case of an adult female with type-1 Gaucher’s disease.

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