Publication:

Gaucher's disease: a case report

Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. This enzyme is encoded by a gene on chromosome 1. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. Serum β-glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. Here we report a case of Gaucher’s disease.