Work

Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

Year: 2015

Type: article

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.

Source: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH

DOI: 10.7860/jcdr/2015/8493.5507

Author: Dolanchampa Modak

Institution: School of Tropical Medicine

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $275