3-methylglutaconic aciduria type 1

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.

Aliases

3 alpha methylglutaconic aciduria type I
3 methylglutaconic aciduria type 1
3 methylglutaconyl CoA hydratase deficiency
3-methylglutaconic aciduria caused by mutation in AUH
3-methylglutaconic aciduria caused by mutation in auh
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type I
3-Methylglutaconic aciduria, type 1
3-METHYLGLUTACONIC aciduria, type I
3-methylglutaconyl-CoA hydratase deficiency
3-methylglutaconyl-Coa hydratase deficiency
3-methylglutaconyl-CoA hydratase deficiency (auh defect)
3-Mg-Coa-hydratase deficiency
3-MGCA type I (3-MGCA-1)
3MG CoA hydratase deficiency
3MG-CoA hydratase deficiency
AUH 3-methylglutaconic aciduria
auh 3-methylglutaconic aciduria
MGA type 1
MGA type I
Mga, type 1
MGA1
MGCA1