Glutaric aciduria: clinical and laboratory findings in two brothers.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D002547:Cerebral Palsy / Q000235:genetics / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D003065:Coenzyme A / Q000378:metabolism; D003241:Consanguinity; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008239:Lysine / Q000378:metabolism; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D014364:Tryptophan / Q000378:metabolism
D005977:Glutarates; D006901:Hydroxylysine; D014364:Tryptophan; D010088:Oxidoreductases; D008239:Lysine; D003065:Coenzyme A