Glutaric aciduria type 1: An underdiagnosed cause of encephalopathy and dystonia-dyskinesia syndrome in children

Two cases of glutaric aciduria type 1 (GA 1) are presented. GA 1 is probably underdiagnosed and misdiagnosed, and may explain a proportion of cases of extrapyramidal and ‘postencephalitic’ cerebral palsy. Most cases of GA 1 present with a severe dystonic–dyskinetic syndrome following an acute enceph...

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