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Case Reports in Pediatrics
Volume 2014, Article ID 256356, 3 pages
http://dx.doi.org/10.1155/2014/256356
Case Report

A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1

Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, India

Received 10 October 2013; Accepted 25 November 2013; Published 27 January 2014

Academic Editors: P. Visrutaratna and V. C. Wong

Copyright © 2014 S. Pusti et al. 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.

Abstract

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.