Carnitine Deficiency Treatment & Management

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

Medical Care

In infants with carnitine deficiency ascertained via newborn screen program, oral carnitine supplementation is followed by a slow increase of plasma carnitine levels. If the infants’ levels reflect maternal primary carnitine deficiency, the rise in plasma levels is fast and this should prompt the work-up towards the diagnosis of maternal primary carnitine deficiency. Guidelines for the management of carnitine deficiency and other fatty acid mitochondrial disorders have been established.[8]

  • Evaluation for carnitine deficiency may be performed on an outpatient basis. In cases of acute decompensation, inpatient studies may be necessary in the acute phase and following stabilization of the patient.
  • In acute situations, if the patient presents with hypoketotic hypoglycemic encephalopathy, insure stabilization with 10% dextrose in water at rates of 10 mg/kg/min intravenous (IV) initially; adjust infusion rate according to blood glucose concentrations.
  • IV carnitine restores tissue carnitine concentrations for the transport of fatty acids in the mitochondria. This treatment removes toxic metabolites in the form of carnitine esters that are readily excreted in the urine. The use of IV carnitine should be considered only when the diagnosis of primary carnitine deficiency is entertained or confirmed. The use of IV carnitine in disorders of fatty acid oxidation in which long-chain acylcarnitines accumulate and have the potential of being arrhythmogenic is controversial. IV carnitine may be considered in cases of organic acidemias (eg, isovaleric acidemia, propionic acidemia, methylmalonic acidemia) when oral intake is not feasible.
  • Consider pharmacological support for cardiomyopathy.
  • Medical therapy with oral carnitine in primary carnitine deficiency improves fasting ketogenesis, cardiac function, growth, and cognitive performance.
  • Direct the therapy in secondary carnitine deficiency to replenish carnitine and treat the primary metabolic defect with specific diet and other supplements, such as riboflavin, glycine, or biotin.
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Consultations

The following consultations may be indicated:

  • Genetic metabolic services
  • Nutritionist
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Diet

The following may be indicated in patients with carnitine deficiency:

  • Patients with primary carnitine deficiency requires no special diet as long as they are taking carnitine supplementation and are not faced with situations of stress and starvation.
  • Patients with fatty acid oxidation disorders require a high-carbohydrate fat-restricted diet (30% calories from fat) and must eat frequently.
  • Prescribe medium-chain triglyceride supplementation in patients with long-chain fatty acid disorders.
  • Advise use of uncooked cornstarch at bedtime to prevent early morning hypoglycemia after the overnight fast.
  • Supplementation of essential fatty acids (ie, linoleic acids, linolenic acids) prevents the growth restriction and dermatitis that are associated with fatty acid deficiency.
  • Consider specific protein-restricted diets in patients with aminoacidopathies and organic acidemias associated with secondary carnitine deficiency.
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Activity

The following may be noted in patients with carnitine deficiency:

  • Once carnitine supplementation has been instituted for primary carnitine deficiency, cardiac function, strength, and growth improve significantly. No specific recommendations to limit physical activity are indicated if the cardiomyopathy has reverted.
  • Secondary carnitine deficiency caused by fatty acid oxidation disorders may require tempered or restricted activity in certain cases, including the following:
    • Conditions associated with increased risk for rhabdomyolysis and myoglobinuria (eg, carnitine palmitoyltransferase II [CPT-II] deficiency, very long-chain acyl-CoA dehydrogenase [VLCAD] deficiency)
    • Conditions in which a cardiomyopathy is present (eg, long-chain 3-hydroxyacyl-CoA dehydrogenase [LCHAD] deficiency, VLCAD deficiency)
  • Strenuous exercise or activity should be avoided, and frequent snacks and good hydration should be procured with physical activity.
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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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  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].

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