Catalog

3-methylglutaconic aciduria type 1

No MMS code

Link to WHO Definition

3-methylglutaconic aciduria type 1 – http://id.who.int/icd/entity/899935975

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.