Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
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.
Ngu
Lock Hock
LH
Clinical Genetic Unit, Paediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, Malaysia. ngulh@hotmail.com
Zabedah
Md Yunus
MY
Shanti
Balasubramaniam
B
Teh
Siao Hean
SH
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000503:physiopathology* / Q000652:urine*; D008928:Mitochondria / Q000201:enzymology*; D035781:Siblings
D000102:Acetyl-CoA C-Acyltransferase