Autosomal dominant spastic paraplegia type 73

Synonym(s)
- Carnitine palmitoyltransferase 1C deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CPT1C / Carnitine Palmitoyltransferase 1C
  19q13.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carnitine O-palmitoyltransferase 1C, mitochondrial
Pathway
- Carnitine metabolism and fatty acid oxidation
Disease group(s)
- 4.1 Disorders of carnitine metabolism