Preferred Label : Methylmalonic aciduria;
ICD-11 definition : Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized
by gastrointestinal and neurometabolic manifestations resulting from decreased function
of the mitochondrial enzyme methylmalonyl-CoA mutase.;
ICD-11 synonym : Methylmalonic acidaemia;
Origin ID : 2139816011;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized
by gastrointestinal and neurometabolic manifestations resulting from decreased function
of the mitochondrial enzyme methylmalonyl-CoA mutase.
