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Carnitine Deficiency


Shilpa N Bhupathiraju

, PhD, Harvard Medical School and Brigham and Women's Hospital;

Frank Hu

, MD, MPH, PhD, Harvard T.H. Chan School of Public Health

Reviewed/Revised Oct 2023

Carnitine deficiency results from inadequate intake of or inability to metabolize the amino acid carnitine. It can cause a heterogeneous group of disorders. Muscle metabolism is impaired, causing myopathy, hypoglycemia, or cardiomyopathy. Infants typically present with hypoglycemic, hypoketotic encephalopathy. Most often, treatment consists of dietary L-carnitine.

The amino acid carnitine is required for the transport of long-chain fatty acyl coenzyme A (CoA) esters into myocyte mitochondria, where they are oxidized for energy. Carnitine is obtained from foods, particularly animal-based foods, and via endogenous synthesis.

Causes of carnitine deficiency include the following:

The deficiency may be generalized (systemic) or may affect mainly muscle (myopathic).

Symptoms of Carnitine Deficiency

Symptoms of carnitine deficiency and the age at which symptoms appear depend on the cause.

Carnitine deficiency may cause muscle necrosis, myoglobinuria, lipid-storage myopathy, hypoglycemia, fatty liver, and hyperammonemia with muscle aches, fatigue, confusion, and cardiomyopathy.

Diagnosis of Carnitine Deficiency

  • In neonates: Mass spectrometry

  • In adults: Acylcarnitine levels

In neonates, carnitine palmitoyltransferase deficiency is diagnosed using mass spectrometry to screen blood. Prenatal diagnosis may be possible using amniotic villous cells.

In adults, the definitive diagnosis is based on acylcarnitine levels in serum, urine, and tissues (muscle and liver for systemic deficiency; muscle only for myopathic deficiency).

Treatment of Carnitine Deficiency

  • Avoidance of fasting and strenuous exercise

  • Dietary interventions, based on cause

Carnitine deficiency due to inadequate dietary intake, increased requirements, excess losses, decreased synthesis, or (sometimes) enzyme deficiencies can be treated by giving L-carnitine 25 mg/kg orally every 6 hours.

All patients must avoid fasting and strenuous exercise. Consuming uncooked cornstarch at bedtime prevents early morning hypoglycemia.

Some patients require supplementation with medium-chain triglycerides and essential fatty acids (eg, linoleic acid, linolenic acid). Patients with a fatty acid oxidation disorder Beta-Oxidation Cycle Disorders In these processes, there are numerous inherited defects, which typically manifest during fasting with hypoglycemia and metabolic acidosis; some cause cardiomyopathy and muscle weakness. Beta-oxidation... read more require a high-carbohydrate, low-fat diet.

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