Assuntos

Aminoácidos/líquido cefalorraquidiano , Citrulinemia/líquido cefalorraquidiano , Purinas/líquido cefalorraquidiano , Pirimidinas/líquido cefalorraquidiano , Ácido 3-Hidroxibutírico/líquido cefalorraquidiano , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Ácido Láctico/líquido cefalorraquidiano , Ácido Pirrolidonocarboxílico/líquido cefalorraquidiano , Ácido Pirúvico/líquido cefalorraquidiano

RESUMO

Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.

Assuntos

Acidose/etiologia , Erros Inatos do Metabolismo dos Aminoácidos , Glicina/sangue , Cetose/etiologia , Ligases/deficiência , Propionatos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácidos/urina , Citratos/sangue , Citratos/líquido cefalorraquidiano , Citratos/urina , Coenzima A , Creatinina/urina , Crotonatos/urina , Glutamatos/sangue , Glutamatos/líquido cefalorraquidiano , Glutamatos/urina , Glutamina/sangue , Glutamina/líquido cefalorraquidiano , Glutamina/urina , Humanos , Lactente , Corpos Cetônicos/urina , Masculino , Propionatos/urina , Ácido Pirrolidonocarboxílico/sangue , Ácido Pirrolidonocarboxílico/líquido cefalorraquidiano , Ácido Pirrolidonocarboxílico/urina