1.
Eur J Pediatr
; 136(3): 319-23, 1981 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-7262105
RESUMO
We describe a boy who excreted massive amounts of formiminoglutamic acid and hydantoin-5-propionic acid in his urine. He was mildly mentally retarded and epileptic, whereas his twin-brother was completely normal. Loading with L-histidine enhanced the excretion of both metabolites. Treatment was attempted with high doses of folic acid and methionine, but both were without effect on the excretion levels.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Ácido Fólico/metabolismo , Ácido Formiminoglutâmico/urina , Glutaratos/urina , Histidina/metabolismo , Pré-Escolar , Epilepsia/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Masculino
2.
Helv Paediatr Acta
; 33(1): 59-61, 1978 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-669972