From the Guidelines
Carnitine deficiency disorders should be treated with L-carnitine supplementation at doses of 2-5 mg/kg/day, as recommended by the most recent guidelines 1.
Treatment Overview
The treatment of carnitine deficiency disorders primarily involves L-carnitine supplementation, with the goal of alleviating symptoms and preventing complications.
- The dosage of L-carnitine supplementation can vary depending on the severity of the deficiency and the individual patient's needs.
- In patients on prolonged parenteral nutrition (PN) and continuous renal replacement therapy, carnitine deficiency or depletion should be considered, and prevention of deficit is simple with L-carnitine administration 1.
- For patients with proven deficiency, the administration of carnitine supplementation of 2-5 mg/kg/day has been suggested until carnitine and acyl-to-free ratio revert to normal values 1.
Dosage and Administration
- The recommended dosage of L-carnitine supplementation is typically in the range of 2-5 mg/kg/day, as suggested by the ESPEN micronutrient guideline 1.
- In cases of antiretroviral drug toxicity, pharmacologic doses of 50-100 mg/kg/day may be administered 1.
- Adults often receive 3 g/day of carnitine, although this dose may cause side effects such as nausea, vomiting, and abdominal cramps 1.
Monitoring and Adjustments
- Patients should be monitored with regular blood tests to assess carnitine levels and adjust dosing accordingly.
- The effectiveness of treatment is due to carnitine's essential role in fatty acid metabolism, which provides a critical energy source for heart and skeletal muscles, particularly during periods of fasting or increased energy demands.
- Dietary management may also be recommended, including regular meals to avoid prolonged fasting.
From the FDA Drug Label
CARNITOR® (levocarnitine) is indicated in the treatment of primary systemic carnitine deficiency. In some patients, particularly those presenting with cardiomyopathy, carnitine supplementation rapidly alleviated signs and symptoms CARNITOR® (levocarnitine) is also indicated for acute and chronic treatment of patients with an inborn error of metabolism which results in a secondary carnitine deficiency. For the acute and chronic treatment of patients with an inborn error of metabolism which results in secondary carnitine deficiency.
Carnitine Deficiency Disorders can be treated with L-carnitine. The primary systemic carnitine deficiency and secondary carnitine deficiency are two types of disorders that can be treated with this medication.
- Primary systemic carnitine deficiency is characterized by recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy.
- Secondary carnitine deficiency can result from an inborn error of metabolism or end stage renal disease in patients undergoing dialysis. Treatment with L-carnitine can rapidly alleviate signs and symptoms, particularly in patients with cardiomyopathy 2. L-carnitine is indicated for both acute and chronic treatment of these disorders 2 3.
From the Research
Carnitine Deficiency Disorders
- Carnitine deficiency disorders can be primary or secondary, with primary carnitine deficiency being a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy, and sudden cardiac death 4.
- Secondary carnitine deficiencies can occur due to various conditions such as organic acidemias, fatty acid oxidation defects, and certain medical treatments like total parenteral nutrition or hemodialysis 5, 6, 7.
- The clinical manifestations of carnitine deficiency disorders can vary widely, including episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants, and cardiomyopathy, arrhythmias, or fatigability in adulthood 8.
- Diagnosis of primary carnitine deficiency can be suspected on newborn screening and established by demonstration of low plasma free carnitine concentration, reduced fibroblast carnitine transport, and molecular testing of the SLC22A5 gene 8.
- Treatment of primary carnitine deficiency involves supplementation of oral levocarnitine (L-carnitine) at a dose of 50-400 mg/kg/day divided into three doses, and regular monitoring of cardiac function, plasma carnitine levels, and other parameters 4, 8.
- Secondary carnitine deficiencies may respond less obviously to carnitine replacement and require management with high carbohydrate, low fat frequent feedings, and vitamin/cofactor supplementation 6.
- Certain conditions like vegetarianism, total parenteral nutrition, and hemodialysis can lead to inadequate dietary supply of carnitine, resulting in secondary carnitine deficiency 7.