1.
J Pediatr
; 116(3): 444-5, 1990 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-2308039
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácido Oxirredutases/metabolismo , Proteínas de Transporte/metabolismo , Amostra da Vilosidade Coriônica , Glicina/sangue , Complexos Multienzimáticos/metabolismo , Transferases/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Vilosidades Coriônicas/enzimologia , Feminino , Humanos , Gravidez
2.
J Pediatr
; 110(6): 873-7, 1987 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-3585602
RESUMO
The molecular nature of the glycine cleavage system was investigated in eight patients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH.
Assuntos
Aminoácido Oxirredutases/metabolismo , Proteínas de Transporte/metabolismo , Glicina/sangue , Hidroximetil e Formil Transferases , Erros Inatos do Metabolismo/sangue , Complexos Multienzimáticos/metabolismo , Transferases/metabolismo , Aminometiltransferase , Encéfalo/enzimologia , Glicina/líquido cefalorraquidiano , Humanos , Lactente , Recém-Nascido , Fígado/enzimologia , Erros Inatos do Metabolismo/líquido cefalorraquidiano , Fenótipo , Transtornos Psicomotores/sangue
3.
J Pediatr
; 110(1): 124-6, 1987 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-3794872