Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
Clin Genet
; 50(4): 263-6, 1996 Oct.
Article
em En
| MEDLINE
| ID: mdl-9001814
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acetil-CoA C-Aciltransferase
/
Linfócitos
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Isoleucina
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Japão