Assuntos

Educação de Pós-Graduação em Odontologia , Odontopediatria/educação , Relações Dentista-Paciente , Odontólogos/psicologia , Humanos , Personalidade

RESUMO

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.

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Paralisia Cerebral/urina , Glutaratos/urina , Oxirredutases/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/genética , Paralisia Cerebral/genética , Criança , Pré-Escolar , Coenzima A/metabolismo , Consanguinidade , Humanos , Hidroxilisina/metabolismo , Lactente , Recém-Nascido , Lisina/metabolismo , Masculino , Triptofano/metabolismo