3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 1
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.
Also known as 3-methylglutaconic aciduria caused by mutation in AUH, 3-methylglutaconic aciduria type 1, 3-methylglutaconyl-CoA hydratase deficiency, 3MG-CoA hydratase deficiency, AUH 3-methylglutaconic aciduria, MGA1 — per MONDO