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carnitine palmitoyltransferase deficiencies

Thursday 17 March 2005

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#