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Yang, C. Carnitine Palmitoyltransferase II Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5178 (accessed on 22 September 2026).
Yang C. Carnitine Palmitoyltransferase II Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5178. Accessed September 22, 2026.
Yang, Catherine. "Carnitine Palmitoyltransferase II Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5178 (accessed September 22, 2026).
Yang, C. (2020, December 24). Carnitine Palmitoyltransferase II Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5178
Yang, Catherine. "Carnitine Palmitoyltransferase II Deficiency." Encyclopedia. Web. 24 December, 2020.
Carnitine Palmitoyltransferase II Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency

Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

genetic conditions

References

  1. Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C,Angelini C. Genotype-phenotype correlations in a large series of patients withmuscle type CPT II deficiency. Neurol Res. 2011 Jan;33(1):24-32. doi:10.1179/016164110X12767786356390.
  2. Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP. Clinical features and new molecular findings in CarnitinePalmitoyltransferase II (CPT II) deficiency. J Neurol Sci. 2008 Mar15;266(1-2):97-103.
  3. Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase IIdeficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005 Jan;62(1):37-41.
  4. Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C,Cassanello M, Donati MA, Siciliano G, D'Amico A, Lilliu F, Bruno C, Angelini C.Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Clin Genet. 2012 Sep;82(3):232-9. doi:10.1111/j.1399-0004.2011.01786.x.
  5. Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I,Wuyts W, Das AM. Carnitine-palmitoyltransferase 2 deficiency: novel mutations andrelevance of newborn screening. Am J Med Genet A. 2008 Nov 15;146A(22):2925-8.doi: 10.1002/ajmg.a.32545.
  6. Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR,Tein I, Vladutiu GD. CPT2 gene mutations resulting in lethal neonatal or severeinfantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008Aug;94(4):422-7. doi: 10.1016/j.ymgme.2008.05.002.
  7. 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.
  8. Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S,Pollitt RJ. Mutation and biochemical analysis in carnitine palmitoyltransferasetype II (CPT II) deficiency. J Inherit Metab Dis. 2003;26(6):543-57.
  9. Wieser T, Deschauer M, Olek K, Hermann T, Zierz S. Carnitinepalmitoyltransferase II deficiency: molecular and biochemical analysis of 32patients. Neurology. 2003 Apr 22;60(8):1351-3.
  10. Wieser T. Carnitine Palmitoyltransferase II Deficiency. 2004 Aug 27 [updated2019 Jan 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1253/
  11. Ørngreen MC, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M,Vissing J. Fuel utilization in subjects with carnitine palmitoyltransferase 2gene mutations. Ann Neurol. 2005 Jan;57(1):60-6.
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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
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Update Date: 19 Apr 2021
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