3-hydroxy-3-methylglutaric aciduria
From BugSigDB
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.
- Aliases
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-OH 3-Methyl glutaric aciduria
- defect in leucine metabolism
- deficiency of hydroxymethylglutaryl-CoA lyase
- HL deficiency
- HMG CoA lyase deficiency
- HMG-CoA lyase deficiency
- HMG-Coa lyase deficiency
- Hmgcl deficiency
- HMGCLD
- Hydroxymethylglutaric aciduria
- hydroxymethylglutaryl-CoA lyase deficiency
