3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaric aciduria
Definition
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.
Also known as 3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 3-OH 3-Methyl glutaric aciduria, deficiency of hydroxymethylglutaryl-CoA lyase, HMG-CoA lyase deficiency, Hydroxymethylglutaric aciduria, hydroxymethylglutaryl-CoA lyase deficiency — per MONDO