Carnitine Deficiency Differential Diagnoses

  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 13, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Fernando Scaglia, MD, FACMG  Associate Professor of Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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

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

  4. 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. Oct 2006;29(5):627-30. [Medline].

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

  6. 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. Apr 7 2010;[Medline].

  7. Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. Jun 2008;94(2):162-6. [Medline].

  8. [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. Sep 2006;13(9):923-9. [Medline].

  9. Angelini C, Semplicini C. Metabolic myopathies: the challenge of new treatments. Curr Opin Pharmacol. Mar 29 2010;[Medline].

  10. 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. [Medline].

  11. 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. Nov 2003;112(5):1152-5. [Medline].

  12. 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. Feb 1995;126(2):287-92. [Medline].

  13. Borum PR. Carnitine in neonatal nutrition. J Child Neurol. Nov 1995;10 Suppl 2:S25-31. [Medline].

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

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

  16. 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. May 15 2006;142C(2):77-85. [Medline].

  17. Pons R, De Vivo DC. Primary and secondary carnitine deficiency syndromes. J Child Neurol. Nov 1995;10 Suppl 2:S8-24. [Medline].

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

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

  20. Roe C, Coates P. Mitochondrial fatty acid oxidation disorders. In: 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.

  21. 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. Jun 1999;22(4):488-502. [Medline].

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

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

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

 
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