Carnitine palmitoyltransferase 1A deficiency

(CPT1 deficiency)

Type

Disease
External link(s)
Gene
- CPT1A / Carnitine Palmitoyltransferase 1A
  11q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carnitine palmitoyltransferase I, liver isoform
Pathway
- Carnitine metabolism and fatty acid oxidation
Disease group(s)
- 4.1 Disorders of carnitine metabolism