Preferred Label : 3-methylglutaconic aciduria type 1;
ICD-11 definition : 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism
with a variable clinical phenotype ranging from mildly delayed speech to psychomotor
retardation, coma, failure to thrive, metabolic acidosis and dystonia.;
ICD-11 synonym : MGA1- [3-methylglutaconic aciduria type 1]; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency;
ICD-11 acronym : MGA1;
Origin ID : 899935975;
Currated CISMeF NLP mapping
- False automatic mappings
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism
with a variable clinical phenotype ranging from mildly delayed speech to psychomotor
retardation, coma, failure to thrive, metabolic acidosis and dystonia.
