/3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 1

Rare Disease

MONDO:0009610

Also Known As

3-methylglutaconic aciduria caused by mutation in AUH3-methylglutaconic aciduria caused by mutation in auh3-methylglutaconic aciduria type 13-methylglutaconic aciduria type I3-methylglutaconyl-CoA hydratase deficiency3MG-CoA hydratase deficiencyAUH 3-methylglutaconic aciduriaMGA type IMGA1auh 3-methylglutaconic aciduria3 alpha methylglutaconic aciduria type I3 methylglutaconic aciduria type 13 methylglutaconyl CoA hydratase deficiency3-METHYLGLUTACONIC aciduria, type I3-MGCA type I (3-MGCA-1)3-Methylglutaconic aciduria, type 13-Mg-Coa-hydratase deficiency3-methylglutaconyl-CoA hydratase deficiency (auh defect)3-methylglutaconyl-Coa hydratase deficiency3MG CoA hydratase deficiencyMGCA1Mga, 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.