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 CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 1  |  Page : 85-86

Glutaric aciduria type I: A rare metabolic disorder mimicking as choreoathetoid cerebral palsy


1 Department of Radiodiagnosis, S.C.B. Medical College, Cuttack, Odisha, India
2 Department of Neurology, S.C.B. Medical College, Cuttack, Odisha, India
3 Department of Radiodiagnosis, KIMS, Bhubaneswar, Odisha, India

Correspondence Address:
Lulup Kumar Sahoo
Department of Neurology, S.C.B. Medical College, Cuttack, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_165_16

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Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglutaric acid. We report a case of a 7-year-old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy. The presence of characteristic neuroimaging and biochemical studies led to the diagnosis of GA I.






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