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What can lead to a deficiency of carnitine?
Last reviewed: 23.04.2024
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Carnitine deficiency is the result of inadequate intake or inability to metabolize the amino acid carnitine. The deficiency of carnitine is a heterogeneous group of disorders. Muscle metabolism worsens, leading to myopathy, hypoglycemia, or cardiomyopathy. Most often, the treatment consists of recommending a diet enriched with L-carnitine.
The amino acid carnitine is necessary for the transport of esters of coenzyme (coenzyme) A and long-chain fatty acids, acetyl-coenzyme A, into the mitochondria of the myocyte, where they are oxidized in order to obtain energy. Carnitine is found in foods, especially animal origin, and is also synthesized in the body.
Causes of Carnitine Deficiency
Causes of deficiency of carnitine: inadequate intake [eg, due to fashion diets, inaccessible foods, complete parenteral nutrition (PPT)]; inability to assimilate due to a deficiency of enzymes (eg, deficiency of carnitine-palmitoyltransferase, methyl malonatlaciduria, propionatacidemia, isovaleriatemia); reduced endogenous synthesis of carnitine in severe liver damage; excessive loss of carnitine with diarrhea, increased diuresis, hemodialysis; hereditary pathology of the kidneys, in which carnitine is intensely excreted; an increase in the demand for carnitine in ketosis, an increase in the body's requirements for the oxidation of fatty acids; use of valproate. The deficiency of carnitine can be generalized (systemic) or can affect mainly the muscles (myopathic).
[Symptoms of Carnitine Deficiency
Symptoms and age at which symptoms appear depend on the cause of the deficiency of carnitine. A deficiency of carnitine can lead to muscle necrosis, myoglobinuria, the so-called lipid myopathy, hypoglycemia, fatty liver degeneration and hyperammonemia, accompanied by muscle pain, weakness, confusion and cardiomyopathy.
In newborns, the deficiency of carnitine-palmitoyltransferase is diagnosed by mass spectrometry. Prenatal diagnosis can be established by analyzing the amniotic fluid (amniotic villous cells). In adults, the final diagnosis of carnitine deficiency is established on the basis of determining the level of acyl carnitine in serum, urine and tissues (in muscles and liver for systemic deficiency, only in muscles for the myopathic form of deficiency).
Carnitine deficiency treatment
The deficiency of carnitine, which develops due to its inadequate intake with food, increased demand for it, excessive losses, reduced synthesis and (sometimes) due to deficiency of enzymes, can be treated by prescribing L-carnitine at a rate of 25 mg / kg orally every 6 hours.