1.
Clin Genet
; 50(4): 263-6, 1996 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-9001814
RESUMO
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mild forms of this disorder. They did not excrete tiglylglycine in urine. Their EB-transformed lymphocytes contained residual T2 activity, which was confirmed by immunotitration analysis. In immunoblot analysis, the bands corresponding to T2 in the samples of the cell lines from two patients were the most intensely detected among those from 19 T2-deficient cell lines tested.
Assuntos
Acetil-CoA C-Aciltransferase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Isoleucina/urina , Linfócitos/enzimologia , Acetil-CoA C-Aciltransferase/sangue , Acidose/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Linhagem Celular Transformada , Criança , Coenzima A-Transferases/sangue , Consanguinidade , Glicina/análogos & derivados , Glicina/urina , Humanos , Recém-Nascido , Isoleucina/metabolismo , Japão , Corpos Cetônicos/metabolismo , Masculino , Núcleo Familiar
2.
Nihon Ronen Igakkai Zasshi
; 29(1): 70-1, 1992 Jan.
Artigo
em Japonês
| MEDLINE
| ID: mdl-1560613