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CC BY-NC-ND 4.0 · International Journal of Epilepsy 2015; 02(01): 044-048
DOI: 10.1016/j.ijep.2015.02.001
Case Report
Thieme Medical and Scientific Publishers Private Ltd.

Batwing appearance – A neuroradiologic clue to glutaric aciduria-type 1

Anusha Doraiswamy
1   Institute of Neurology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai 600 003, India
,
Bhanu Kesavamurthy
1   Institute of Neurology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai 600 003, India
,
Lakshminarasimhan Ranganathan
1   Institute of Neurology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai 600 003, India
› Author Affiliations
Further Information

Publication History

Received: 06 October 2014

Accepted: 11 February 2015

Publication Date:
05 May 2018 (online)

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Abstract

Glutaric aciduria type 1 (GA-1) is a rare inherited neurometabolic disorder due to enzymatic block in the common degradation pathway for lysine and tryptophan. We report a 16 month girl child who presented with an initial acute encephalopathic crisis followed by static encephalopathy with characteristic neuroimaging findings. Diagnosis was confirmed by demonstrating elevated urinary glutaric acid and 3-hydroxyglutaric acid levels. Early diagnosis and adequate dietetic therapy can prevent most of the neurological symptoms.

Keywords

Inborn errors of metabolism - Neurodegenerative disorders - Basal ganglia diseases
 

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