/3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria

Rare Disease

MONDO:0009520

Also Known As

3-OH 3-Methyl glutaric aciduria3-hydroxy-3-methylglutaric aciduria3-hydroxy-3-methylglutaryl-CoA lyase deficiencyHMG-CoA lyase deficiencyHydroxymethylglutaric aciduriadeficiency of hydroxymethylglutaryl-CoA lyasehydroxymethylglutaryl-CoA lyase deficiencyHL deficiencyHMG CoA lyase deficiencyHMG-Coa lyase deficiencyHMGCLDHmgcl deficiencydefect in leucine metabolism

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.