Primary carnitine deficiency

(SLC22A5 deficiency)

Type

Disease
External link(s)
Gene
- SLC22A5 / solute carrier family 22 member 5
  5q31.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carnitine transporter
Pathway
- Carnitine metabolism and fatty acid oxidation
Disease group(s)
- 4.1 Disorders of carnitine metabolism