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

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

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 diagnose...

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Bibliographic Details
Main Authors: DOLANCHAMPA MODAK, SASMIT ROY, UTTAM NATH, S.K.GUHA
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2015-02-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
gaucher disease
glucocerebrosidase
lysosomal storage disorder
sibling
Online Access:https://jcdr.net/articles/PDF/5507/8493_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(AK)_PF2(AGAK).pdf
Description
Summary: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.
ISSN:2249-782X
0973-709X

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