alexa Treatment Approach of a Patient Affected by Both Argininosuccinic Aciduria and Methylmalonic Aciduria
ISSN: 2161-0665

Pediatrics & Therapeutics
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Case Report

Treatment Approach of a Patient Affected by Both Argininosuccinic Aciduria and Methylmalonic Aciduria

Ozlem Unal*, Turgay Coskun, Ali Dursun, Aysegul Tokatli, Burcu Hismi, Emine Pektas and Serap H. Sivri

Department of Pediatrics, Hacettepe University, Turkey

*Corresponding Author:
Ozlem Unal
Department of Pediatrics
Faculty of Medicine
Hacettepe University, Turkey
Tel: 00905422518800
E-mail: [email protected]

Received Date: October 10, 2014; Accepted Date: December 03, 2014; Published Date: December 05, 2014

Citation: Unal O, Coskun T, Dursun A, Tokatli A, Hismi B, et al. (2014) Treatment Approach of a Patient Affected by Both Argininosuccinic Aciduria and Methylmalonic Aciduria. Pediat Therapeut 5:223. doi: 10.4172/2161-0665.1000223

Copyright: © 2014 Unal O, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approach. First sibling of the family died with MMA, second sibling was diagnosed with ASA, and third sibling was diagnosed with both ASA and MMA. Here we report terapeutic approach of this patient. Dietary regimen of the patient was planned with MMA being the basis. When a patient was admitted with a history of sibling with an IEM, possibility of another disorder should always be kept in mind particularly in the countries that consanguineous marriages are commonly practiced.

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