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Xu, R. Primary Carnitine Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5431 (accessed on 21 September 2026).
Xu R. Primary Carnitine Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5431. Accessed September 21, 2026.
Xu, Rita. "Primary Carnitine Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5431 (accessed September 21, 2026).
Xu, R. (2020, December 24). Primary Carnitine Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5431
Xu, Rita. "Primary Carnitine Deficiency." Encyclopedia. Web. 24 December, 2020.
Primary Carnitine Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency

Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.

genetic conditions

References

  1. Amat di San Filippo C, Pasquali M, Longo N. Pharmacological rescue ofcarnitine transport in primary carnitine deficiency. Hum Mutat. 2006Jun;27(6):513-23.
  2. El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA,Graham B, Scaglia F, Wong LJ. Maternal systemic primary carnitine deficiencyuncovered by newborn screening: clinical, biochemical, and molecular aspects.Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7.
  3. Lahjouji K, Mitchell GA, Qureshi IA. Carnitine transport by organic cationtransporters and systemic carnitine deficiency. Mol Genet Metab. 2001Aug;73(4):287-97. Review.
  4. Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, FumicK, Maradin M, Tein I. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002 Aug15;111(3):271-84.
  5. Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjectsevaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.
  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. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. Review.
  8. Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA,Pasquali M, Berry SA, Longo N. Expanded newborn screening identifies maternalprimary carnitine deficiency. Mol Genet Metab. 2007 Apr;90(4):441-5.
  9. Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M.Primary carnitine deficiency: novel mutations and insights into the cardiacphenotype. Clin Genet. 2014 Feb;85(2):127-37. doi: 10.1111/cge.12112.
  10. Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad Sci. 2004Nov;1033:42-51. Review.
  11. Tein I. Carnitine transport: pathophysiology and metabolism of known moleculardefects. J Inherit Metab Dis. 2003;26(2-3):147-69. Review.
  12. Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N.Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001Nov-Dec;3(6):387-92.
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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 : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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