Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
- Author:
Lock Hock Ngu
;
Md Yunus Zabedah
;
Balasubramaniam Shanti
;
Siao Hean Teh
- Publication Type:Journal Article
- MeSH:
2-methylacetoacetyl-coenzyme A;
deficiency;
Acetyl-CoA C-Acetyltransferase;
Biochemical;
Siblings
- From:The Malaysian journal of pathology
2008;30(2):109-14
- CountryMalaysia
- Language:Malay
-
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.
- Full text:W020151202519655165285.pdf
