A Case report on aneurometabolic disorder: Glutaric aciduria type I
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Setareh Sadehal 1, Peyman Eshraghi 1 *
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1 Department of pediatric endocerinology, Mashhad university of medical sciences, Mashhad, Iran* Corresponding Author

Abstract

Glutaric aciduria type I is caused by an autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase, which gives rise to the glutaric acid and 3-hydroxyglotoric acidase as well as gluturyl carnitine in body fluid.efected patient can present with macrocephaly and acute dystonia secondry to striatal degeneration following infection and vaccination between 6 and 18 month. Here in, we reported five cases with macrocephaly, dystonia diagnosed with glutaric aciduria type I using the typical brain imaging and tandem mass spectrometry.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 16, Issue 2, April 2019, Article No: em117

https://doi.org/10.29333/ejgm/93475

Publication date: 22 Apr 2019

Online publication date: 15 Jul 2018

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Article Downloads: 1984

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