Mitochondrial acetoacetyl-CoA thiolase deficiency

(MAT deficiency)

Synonym(s)
- β-Ketothiolase deficiency,
- Oxothiolase deficiency
Type

Disease
External link(s)
Gene
- ACAT1 / acetyl-CoA acetyltransferase 1
  11q22.3
  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