Carnitine Deficiency Medication

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

Medication Summary

Use of L-carnitine in primary carnitine deficiency restores plasma carnitine levels to nearly normal, but muscle carnitine levels rise slightly. Muscle function can be normalized in patients with carnitine deficiency when muscle carnitine levels remain less than 10% of controls. Cardiomyopathy often responds well to carnitine supplementation. Carnitine supplementation in fatty acid oxidation disorders and other organic acidurias is to correct carnitine deficiency and to allow removal of toxic intermediates. The other goal of therapy is to restore CoA levels. Carnitine therapy for long-chain fatty acid oxidation defects has become questionable because it promotes formation of long-chain acylcarnitines that may cause arrhythmogenesis and membrane dysfunction. Carnitine supplementation in total parenteral nutrition (TPN) prevents secondary carnitine deficiency in preterm newborns.

Next

Dietary supplements

Class Summary

At high doses, L-carnitine corrects severe carnitine depletion and associated metabolic abnormalities observed in primary carnitine deficiency and enables the production of ketone bodies during fasting. In secondary carnitine deficiency, carnitine enhances excretion of toxic metabolites and generation of free CoA.

View full drug information

Levocarnitine (Carnitor, L-Carnitine)

 

An amino acid derivative synthesized from methionine and lysine, required in energy metabolism. Can promote excretion of excess fatty acids in patients with defects in fatty acid metabolism or specific organic acidopathies, which bioaccumulate acyl CoA esters. Normal levels occur in liver, and mild level increases occur in skeletal muscle. May cause reversal of skeletal and heart muscle abnormalities.

View full drug information

Dextrose (D10W, D-glucose)

 

Monosaccharide absorbed from intestines and distributed, stored, and used by tissues.

Parenterally injected dextrose is used in patients unable to sustain adequate PO intake. Direct PO absorption results in a rapid increase in blood glucose concentrations. Dextrose is effective in small doses. Concentrated dextrose infusions provide higher amounts of glucose and increased caloric intake in a small volume of fluid.

View full drug information

Riboflavin (Vitamin B-2)

 

Essential in activation of pyridoxine and conversion of tryptophan to niacin; component of flavoprotein enzymes, which are necessary for tissue respiration. Riboflavin functions as a cofactor for electron transport in complex I, complex II, and in the electron transfer of flavoprotein. It has proven useful for the treatment of some patients with SCAD deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, and milder forms of glutaric aciduria type II.

View full drug information

Betaine (Cystadane)

 

Methyl group donor used in the treatment of homocystinuria. Decreases elevated homocysteine blood levels. Used for conditions that can cause hyperhomocysteinemia and secondary carnitine deficiency (ie, cobalamin C deficiency).

View full drug information

Hydroxocobalamin (Vitamin B-12, Hydro cobex)

 

Deoxyadenosylcobalamin and hydroxocobalamin are active forms of vitamin B-12 in humans. Vitamin B-12 synthesized by microbes but not humans or plants. Vitamin B-12 deficiency may result from intrinsic factor deficiency (pernicious anemia), partial or total gastrectomy, or diseases of the distal ileum. Used to treat conditions caused by altered cobalamin metabolism that may cause secondary carnitine deficiency (ie, cobalamin C deficiency).

View full drug information

Ubidecarenone (CoQ-10, Coenzyme Q, Ubiquinone)

 

Coenzyme involved in mitochondrial energy production. Controls flow of oxygen within individual cells. Has essential antioxidant and membrane-stabilizing properties.

Glycine (Aminoacetic acid)

 

The simplest amino acid that helps improve glycogen storage is used in the synthesis of hemoglobin, collagen, and glutathione, and it facilitates the amelioration of high blood fat and uric acid levels. Glycine is primarily used for the treatment of isovaleric acidemia, which is an organic acidemia that causes secondary carnitine depletion.

View full drug information

Biotin

 

Water-soluble vitamin, generally classified as a B-complex vitamin. An essential coenzyme in fat metabolism and in other carboxylation reactions. Used for the treatment of biotin responsive propionic acidemia, which can lead to secondary carnitine deficiency.

Previous
Proceed to Follow-up
 
 
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

  1. 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. Nov 1999;8(12):2247-54. [Medline].

  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.

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.