Carnitine-acylcarnitine translocase deficiency

(CAT deficiency)

Type

Disease
External link(s)
Gene
- SLC25A20 / solute carrier family 25 member 20
  3p21.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carnitine/acylcarnitine carrier protein, mitochondrial
Pathway
- Carnitine metabolism and fatty acid oxidation
Disease group(s)
- 4.1 Disorders of carnitine metabolism