Carnitine palmitoyltransferase II deficiency
What is Carnitine palmitoyltransferase II deficiency?
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Other condition names
- CPT2
- CPTII
- Carnitine palmitoyltransferase deficiency type 2
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: Unknown
- Europe: 1-9 in 100,000
Age of Onset
- All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.