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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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

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spelling	doaj-f5ea461e3824438eb232e27dcae2370a2020-11-25T02:58:14ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-02-0192OD01OD0210.7860/JCDR/2015/8493.5507Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case ReportsDOLANCHAMPA MODAK0SASMIT ROY1UTTAM NATH2S.K.GUHA3Assistant Professor, Department of Tropical Medicine, School of Tropical Medicine, Kolkata, India.Post Graduate Trainee, Department of Tropical Medicine, Schoolof Tropical Medicine, Kolkata, India.Assistant Professor, Department of Hematology and Transfusion Medicine, Institute of Hematology & Transfusion Medicine, Kolkata, India.Professor, Department of Tropical Medicine, School of Tropical Medicine, Kolkata, India.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.https://jcdr.net/articles/PDF/5507/8493_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(AK)_PF2(AGAK).pdfgaucher diseaseglucocerebrosidaselysosomal storage disordersibling
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	DOLANCHAMPA MODAK SASMIT ROY UTTAM NATH S.K.GUHA
spellingShingle	DOLANCHAMPA MODAK SASMIT ROY UTTAM NATH S.K.GUHA Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports Journal of Clinical and Diagnostic Research gaucher disease glucocerebrosidase lysosomal storage disorder sibling
author_facet	DOLANCHAMPA MODAK SASMIT ROY UTTAM NATH S.K.GUHA
author_sort	DOLANCHAMPA MODAK
title	Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
title_short	Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
title_full	Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
title_fullStr	Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
title_full_unstemmed	Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
title_sort	type 1 and type 3 gaucher disease in two siblings in a family: 2 unusual case reports
publisher	JCDR Research and Publications Private Limited
series	Journal of Clinical and Diagnostic Research
issn	2249-782X 0973-709X
publishDate	2015-02-01
description	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.
topic	gaucher disease glucocerebrosidase lysosomal storage disorder sibling
url	https://jcdr.net/articles/PDF/5507/8493_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(AK)_PF2(AGAK).pdf
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Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports

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