Carnitine Deficiency Questions & Answers

1. 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(1):68. [QxMD MEDLINE Link].

2. Tamai I. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21). Biopharm Drug Dispos. 2012 Sep 5. [QxMD MEDLINE Link].

3. Koizumi A, Nozaki J, Ohura T, et al. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet. 1999 Nov. 8(12):2247-54. [QxMD MEDLINE Link].

4. Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr. 90(4):441-5. [QxMD MEDLINE Link].

5. Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr. 2001 Apr. 138(4):581-4. [QxMD MEDLINE Link].

6. Rasmussen J, Dunø M, Lund AM, Steuerwald U, Hansen SH, Joensen HD, et al. Increased risk of sudden death in untreated Primary Carnitine Deficiency. J Inherit Metab Dis. 2019 Aug 1. [QxMD MEDLINE Link].

7. Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C. Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis. 2006 Oct. 29(5):627-30. [QxMD MEDLINE Link].

8. Wattanasirichaigoon D, Khowsathit P, Visudtibhan A, Suthutvoravut U, Charoenpipop D, Kim SZ. Pericardial effusion in primary systemic carnitine deficiency. J Inherit Metab Dis. 2006 Aug. 29(4):589. [QxMD MEDLINE Link].

9. Agnetti A, Bitton L, Tchana B, Raymond A, Carano N. Primary carnitine deficiency dilated cardiomyopathy: 28years follow-up. Int J Cardiol. 2012 Jun 2. [QxMD MEDLINE Link].

10. He L, Kim T, Long Q, Liu J, Wang P, Zhou Y, et al. Carnitine palmitoyltransferase-1b deficiency aggravates pressure overload-induced cardiac hypertrophy caused by lipotoxicity. Circulation. 2012 Oct 2. 126(14):1705-16. [QxMD MEDLINE Link]. [Full Text].

11. Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis. 2010 Apr 7. [QxMD MEDLINE Link].

12. Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. 2008 Jun. 94(2):162-6. [QxMD MEDLINE Link]. [Full Text].

13. [Guideline] Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006 Sep. 13(9):923-9. [QxMD MEDLINE Link].

14. Angelini C, Semplicini C. Metabolic myopathies: the challenge of new treatments. Curr Opin Pharmacol. 2010 Mar 29. [QxMD MEDLINE Link].

15. Angelini C, Vergani L, Martinuzzi A. Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation. Crit Rev Clin Lab Sci. 1992. 29(3-4):217-42. [QxMD MEDLINE Link].

16. Bok LA, Vreken P, Wijburg FA, et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003 Nov. 112(5):1152-5. [QxMD MEDLINE Link].

17. Bonner CM, DeBrie KL, Hug G, Landrigan E, Taylor BJ. Effects of parenteral L-carnitine supplementation on fat metabolism and nutrition in premature neonates. J Pediatr. 1995 Feb. 126(2):287-92. [QxMD MEDLINE Link].

18. Borum PR. Carnitine in neonatal nutrition. J Child Neurol. 1995 Nov. 10 Suppl 2:S25-31. [QxMD MEDLINE Link].

19. De Vivo D, Tein I. Primary and secondary disorders of carnitine metabolism. International Pediatrics. 1990. 5:134-41.

20. Lamhonwah AM, Olpin SE, Pollitt RJ, et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002 Aug 15. 111(3):271-84. [QxMD MEDLINE Link].

21. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15. 142C(2):77-85. [QxMD MEDLINE Link].

22. Pons R, De Vivo DC. Primary and secondary carnitine deficiency syndromes. J Child Neurol. 1995 Nov. 10 Suppl 2:S8-24. [QxMD MEDLINE Link].

23. Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Curr Opin Pediatr. 1998 Dec. 10(6):615-21. [QxMD MEDLINE Link].

24. Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ. Sudden neonatal death in carnitine transporter deficiency. J Pediatr. 1997 Aug. 131(2):304-5. [QxMD MEDLINE Link].

25. Roe C, Coates P. Mitochondrial fatty acid oxidation disorders. Scriver CR, et al, eds. The Metabolic and Molecular Basic of Inherited Disease. 7th ed. New York, NY: McGraw-Hill, Health Professions Division;.; 1995. 1501-1533.

26. Saudubray JM, Martin D, de Lonlay P, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis. 1999 Jun. 22(4):488-502. [QxMD MEDLINE Link].

27. Scaglia F, Longo N. Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999 Apr. 23(2):152-61. [QxMD MEDLINE Link].

28. Scaglia F, Wang Y, Longo N. Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys. 1999 Apr 1. 364(1):99-106. [QxMD MEDLINE Link].

29. Stanley CA. Carnitine deficiency disorders in children. Ann NY Acad Sci. 2004. 1003:42-51.

30. Dorum S, Güney Varal I, Gorukmez O, Dogan P, Ekici A. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency. J Pediatr Endocrinol Metab. 2019 Jul 26. 32 (7):781-783. [QxMD MEDLINE Link].

31. Clark MA, Stein REK, Silver EJ, Khalid S, Fuloria M, Esteban-Cruciani NV. Carnitine deficiency in preterm infants: A national survey of knowledge and practices. J Neonatal Perinatal Med. 2017. 10 (4):381-386. [QxMD MEDLINE Link].

Fernando Scaglia, MD, FACMG Professor, Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital; Co-Director, Pediatric Mitochondrial Medicine Clinic, Texas Children's Hospital; Clinical Director, BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong

Fernando Scaglia, MD, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for the Study of Inborn Errors of Metabolism

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article