J Pediatr. 1977 May;90(5):740-5.

Glutaric aciduria: clinical and laboratory findings in two brothers.

Gregersen N, Brandt NJ, Christensen E, Gron I, Rasmussen K, Brandt S.

Abstract

In two siblings with dystonic cerebral palsy the urinary metabolic profiles of organic acids were dominated by glutaric acid, a metabolite not normally present in urine. The exretion of glutaric acid amounted to several grams per day. The urinary excretion of beta-OH-glutaric acid and glutaconic acid was also enhanced. Imparied metabolism of glutaryl-CoA by leukocytes indicates that the patients suffer from an inborn error of lysine, tryptophan, and hydroxylysine metabolism. A defective oxidation of glutaryl-CoA to crotonyl-CoA, probably due to a deficiency of glutaryl-CoA dehydrogenase, is consistent with these findings.

PMID:: 853337; [PubMed - indexed for MEDLINE]

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[Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria]. [Padiatr Padol. 1991]
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