| Literature DB >> 25859481 |
Dolanchampa Modak1, Sasmit Roy2, Uttam Nath3, S K Guha4.
Abstract
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.Entities:
Keywords: Gaucher disease; Glucocerebrosidase; Lysosomal storage disorder; Sibling
Year: 2015 PMID: 25859481 PMCID: PMC4378763 DOI: 10.7860/JCDR/2015/8493.5507
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X