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A Case of Organic Acidemia: Are Physicians Aware Enough?

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...

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Autores principales: Mosleh, Taskina, Dey, Sanjoy Kumer, Mannan, Md Abdul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Jaypee Brothers Medical Publishers 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578568/
https://www.ncbi.nlm.nih.gov/pubmed/29201734
http://dx.doi.org/10.5005/jp-journals-10018-1175
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author Mosleh, Taskina
Dey, Sanjoy Kumer
Mannan, Md Abdul
author_facet Mosleh, Taskina
Dey, Sanjoy Kumer
Mannan, Md Abdul
author_sort Mosleh, Taskina
collection PubMed
description 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. HOW TO CITE THIS ARTICLE: Mosleh T, Dey SK, Mannan MA. A Case of Organic Acidemia: Are Physicians Aware Enough? Euroasian J Hepato-Gastroenterol 2016;6(1):89-90.
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spelling pubmed-55785682017-11-30 A Case of Organic Acidemia: Are Physicians Aware Enough? Mosleh, Taskina Dey, Sanjoy Kumer Mannan, Md Abdul Euroasian J Hepatogastroenterol Case Report 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. HOW TO CITE THIS ARTICLE: Mosleh T, Dey SK, Mannan MA. A Case of Organic Acidemia: Are Physicians Aware Enough? Euroasian J Hepato-Gastroenterol 2016;6(1):89-90. Jaypee Brothers Medical Publishers 2016 2016-07-09 /pmc/articles/PMC5578568/ /pubmed/29201734 http://dx.doi.org/10.5005/jp-journals-10018-1175 Text en Copyright © 2016; Jaypee Brothers Medical Publishers (P) Ltd. This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/
spellingShingle Case Report
Mosleh, Taskina
Dey, Sanjoy Kumer
Mannan, Md Abdul
A Case of Organic Acidemia: Are Physicians Aware Enough?
title A Case of Organic Acidemia: Are Physicians Aware Enough?
title_full A Case of Organic Acidemia: Are Physicians Aware Enough?
title_fullStr A Case of Organic Acidemia: Are Physicians Aware Enough?
title_full_unstemmed A Case of Organic Acidemia: Are Physicians Aware Enough?
title_short A Case of Organic Acidemia: Are Physicians Aware Enough?
title_sort case of organic acidemia: are physicians aware enough?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578568/
https://www.ncbi.nlm.nih.gov/pubmed/29201734
http://dx.doi.org/10.5005/jp-journals-10018-1175
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