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Case Report

Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo

Clin Exp Pediatr. 2002;45(10):1278-1282. Published online October 15, 2002

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...

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