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.
MONDO:0017359
3-methylglutaconic aciduria
is_a
3 alpha methylglutaconic aciduria type I
related
3 methylglutaconic aciduria type 1
related
3 methylglutaconyl CoA hydratase deficiency
related
3-METHYLGLUTACONIC aciduria, type I
related
3-MGCA type I (3-MGCA-1)
related
3-methylglutaconic aciduria caused by mutation in AUH
exact
3-methylglutaconic aciduria caused by mutation in auh
exact
3-methylglutaconic aciduria type 1
exact
3-methylglutaconyl-CoA hydratase deficiency
exact
3-methylglutaconyl-CoA hydratase deficiency (auh defect)
related
3MG CoA hydratase deficiency
related
3MG-CoA hydratase deficiency
exact
AUH 3-methylglutaconic aciduria
exact
MGA1
exact
MGCA1
related
auh 3-methylglutaconic aciduria
exact