HMG-CoA lyase deficiency

(HMGCL deficiency)

Synonym(s)
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency,
- Hydroxymethylglutaric aciduria
Type

Disease
External link(s)
Gene
- HMGCL / 3-hydroxy-3-methylglutaryl-CoA lyase
  1p36.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3-hydroxy-3-methylglutaryl-CoA lyase
Pathway
- Ketone body metabolism
Disease group(s)
- 4.3 Disorders of ketone body metabolism