mHMG-CoA synthase deficiency

(HMGCS2 deficiency)

Synonym(s)
- Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Type

Disease
External link(s)
Gene
- HMGCS2 / 3-hydroxy-3-methylglutaryl-CoA synthase 2
  1p12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3-hydroxy-3-methylglutaryl-CoA synthase 2, mitochondrial
Pathway
- Ketone body metabolism
Disease group(s)
- 4.3 Disorders of ketone body metabolism