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Yang, C. Carnitine Palmitoyltransferase I Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5174 (accessed on 22 September 2026).
Yang C. Carnitine Palmitoyltransferase I Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5174. Accessed September 22, 2026.
Yang, Catherine. "Carnitine Palmitoyltransferase I Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5174 (accessed September 22, 2026).
Yang, C. (2020, December 24). Carnitine Palmitoyltransferase I Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5174
Yang, Catherine. "Carnitine Palmitoyltransferase I Deficiency." Encyclopedia. Web. 24 December, 2020.
Carnitine Palmitoyltransferase I Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency

Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.

genetic conditions

References

  1. Akkaoui M, Cohen I, Esnous C, Lenoir V, Sournac M, Girard J, Prip-Buus C.Modulation of the hepatic malonyl-CoA-carnitine palmitoyltransferase 1Apartnership creates a metabolic switch allowing oxidation of de novo fatty acids.Biochem J. 2009 May 27;420(3):429-38. doi: 10.1042/BJ20081932.
  2. Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML. Novel mutations inCPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase Ideficiency. Mol Genet Metab. 2004 May;82(1):59-63.
  3. Dykema DM. Carnitine palmitoyltransferase-1A deficiency: a look at classic andarctic variants. Adv Neonatal Care. 2012 Feb;12(1):23-7. doi:10.1097/ANC.0b013e318242df6d.
  4. Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J,Prip-Buus C. Functional and structural basis of carnitine palmitoyltransferase 1Adeficiency. J Biol Chem. 2003 Dec 12;278(50):50428-34.
  5. Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S,Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE.The paradox of the carnitine palmitoyltransferase type Ia P479L variant inCanadian Aboriginal populations. Mol Genet Metab. 2009 Apr;96(4):201-7. doi:10.1016/j.ymgme.2008.12.018.
  6. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transportand the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May15;142C(2):77-85. Review.
  7. Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, IvesK, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS. Features of carnitinepalmitoyltransferase type I deficiency. J Inherit Metab Dis. 2001Feb;24(1):35-42.
  8. Rajakumar C, Ban MR, Cao H, Young TK, Bjerregaard P, Hegele RA. Carnitinepalmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and isassociated with elevated plasma apolipoprotein A-I. J Lipid Res. 2009Jun;50(6):1223-8. doi: 10.1194/jlr.P900001-JLR200.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 722
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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