hydroxylysine and Cerebral-Palsy

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.

Topics: Amino Acid Metabolism, Inborn Errors; Cerebral Palsy; Child; Child, Preschool; Coenzyme A; Consanguinity; Glutarates; Humans; Hydroxylysine; Infant; Infant, Newborn; Lysine; Male; Oxidoreductases; Tryptophan