Cytosolic acetoacetyl-CoA thiolase deficiency

(ACAT2 deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- ACAT2 / acetyl-CoA acetyltransferase 2
  6q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acetyl-CoA acetyltransferase, mitochondrial
Pathway
- Ketone body metabolism
Disease group(s)
- 4.3 Disorders of ketone body metabolism