Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

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Abstract

A 16-year-old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society

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