carnitine palmitoyltransferase deficiencies
Types
carnitine palmitoyltransferase deficiency type 1 (CPTD1) (MIM.255120)
carnitine palmitoyltransferase deficiency type 2 (CPTD2)
- lethal neonatal CPTD2 (MIM.608836)
- infantile CPTD2 (MIM.600649)
- adult-onset CPTD2 (MIM.255100)
References
Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov;83(11):1543-54. PMID: 14615409