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

摘要

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.