Euroasian journal of hepato-gastroenterology

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VOLUME 6 , ISSUE 1 ( January-June, 2016 ) > List of Articles


A Case of Organic Acidemia: Are Physicians Aware Enough?

Taskina Mosleh, Sanjoy Kumer Dey, Md Abdul Mannan

Citation Information : Mosleh T, Kumer Dey S, Abdul Mannan M. A Case of Organic Acidemia: Are Physicians Aware Enough?. Euroasian J Hepatogastroenterol 2016; 6 (1):89-90.

DOI: 10.5005/jp-journals-10018-1175

License: CC BY-NC 4.0

Published Online: 01-01-2010

Copyright Statement:  Copyright © 2016; The Author(s).


Diversity of clinical presentation of inborn errors of metabolism (IEM) gives a diagnostic challenge to the practicing physicians. In recent years there have been dramatic advances in the diagnosis and treatment of these fatal diseases, which shows improved prognosis of many of these conditions. The need for screening for IEM arises out of the fact that most cases take to irreversible effects as time progresses. Here, the main challenge is to recognize the early signs and symptoms that are also common to sick infants with other diseases. We describe a 32-day-old female infant who was finally diagnosed as a case of IEM (organic acidemia).The baby had a history of multiple neonatal intensive care unit admission. She died during her last hospital admission. The purpose of our case presentation is to provide clues to the true nature of the disease and to make physicians aware about the possibility of IEM.

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  1. Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999 Nov 4;117(6):251-265
  2. Inborn errors of metabolism: review and data from a tertiary care center. Indian J Clin Biochem 2009 Jul;24(3):215-222
  3. Inborn errors of metabolism: lessons from a clinical case. Harefuah 1989 Aug;117(3-4):51-56
  4. Organic aciduria: a case report. Indian J Med Case Rep 2013 Jul-Sep;2(3):31-41
  5. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997;1(11):1-95
  6. The organic acidemias: an overview [last update: 2009 Dec 22]. Available from: http://www.ncbi.nlm. 7. Narayanan MP, Kannan V, Vinayan KP, Vasudevan DM. Diagnosis of major organic acidurias in children: 2 years experience at a tertiary care centre. Indian J Clin Biochem 2011 Oct;26(4):347-353
  7. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998 Dec;102(6):1-9
  8. Isovaleric acidemia: new aspects of genetic and phenotypic heterogenecity. Curr Res Organic Acidemias 2007 Jun;1:4-9.
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