3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
MONDO:0017713
disorder of fatty acid oxidation and ketogenesis
is_a
MONDO:0019215
classic organic aciduria
is_a
3-OH 3-Methyl glutaric aciduria
exact
3-hydroxy-3-methylglutaric aciduria
exact
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
exact
HMG CoA lyase deficiency
related
HMG-CoA lyase deficiency
exact
HMGCLD
related
Hydroxymethylglutaric aciduria
exact
defect in leucine metabolism
related
deficiency of hydroxymethylglutaryl-CoA lyase
exact
hydroxymethylglutaryl-CoA lyase deficiency
exact