Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency
The Malaysian Journal of Pathology
; : 109-14, 2008.
Article
em Ml
| WPRIM
| ID: wpr-626477
Biblioteca responsável:
WPRO
ABSTRACT
We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Acetil-CoA C-Acetiltransferase
/
Irmãos
Idioma:
Ml
Revista:
The Malaysian Journal of Pathology
Ano de publicação:
2008
Tipo de documento:
Article