Glutaric aciduria: clinical and laboratory findings in two brothers

J Pediatr. 1977 May;90(5):740-5. doi: 10.1016/s0022-3476(77)81239-0.

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Cerebral Palsy / genetics
  • Cerebral Palsy / urine*
  • Child
  • Child, Preschool
  • Coenzyme A / metabolism
  • Consanguinity
  • Glutarates / urine*
  • Humans
  • Hydroxylysine / metabolism
  • Infant
  • Infant, Newborn
  • Lysine / metabolism
  • Male
  • Oxidoreductases / deficiency*
  • Tryptophan / metabolism

Substances

  • Glutarates
  • Hydroxylysine
  • Tryptophan
  • Oxidoreductases
  • Lysine
  • Coenzyme A