Deficit of a carnitine

Description:

Endogenous formation of a carnitine is carried out generally by cells of a liver and kidneys by transformation of a lysine; as the donator of methyl groups serves methionine. Proteins of foodstuff, and also own proteins of muscular tissue are a source of amino acids. However endogenous synthesis provides the daily need for a carnitine only approximately for 25%. Other quantity has to arrive with food of animal origin: meat, fish, bird and dairy products; breast milk also contains a carnitine. It is counted that the need for a carnitine at adults makes from 200 to 500 mg/days, at the same time the usual menu provides receipt about 100-300 mg/days.
The primary deficit caused by defect of transport of a carnitine in cells and fabrics is the genetic determined disease with an autosomal re-tsessivnym of a mode of inheritance. The system form is characterized by sharp muscular weakness and hypotonia, a heavy cardiomyopathy, fatty dystrophy of a liver and kidneys. At a muscular form at patients the myopathy with accumulation of lipids is observed.

The reasons of secondary deficit of a carnitine are more diverse and meet much more often. Secondary insufficiency is characteristic of big group of hereditary diseases of a metabolism, including of organic acidemias, diseases of transport and oxidation of fatty acids. At these states the low level of a carnitine in blood and fabrics, mainly, is caused by active removal with urine of conjugates of a carnitine with toxic organic acids. For mitochondrial diseases (Kearns-Seyra's syndrome, the progressing ophthalmoplegia, etc.) moderate deficit of a carnitine is inherent - the increased need for it is connected with heavy frustration of electronic transport and oxidizing phosphorylation.

Symptoms of Deficit of a carnitine:

In a human body the main quantity of a carnitine contains in muscles and heart that is caused by high activity of lipidic exchange in these fabrics. In this regard as principal organs - "targets" at insufficiency of a carnitine serve skeletal muscles and a myocardium, in the second turn brain cells, a liver and kidneys suffer. Main signs of deficit of a carnitine: bystry fatigue, reduced working capacity, muscular weakness, hypotonia and a hypotrophy, lag of physical and psychomotor development, decrease in school progress, drowsiness or irritability, dysfunction of heart and liver, frequent infectious diseases - are a consequence of the developing disturbances of energy balance and metabolism of lipids and the related frustration of other types of a metabolism.

Reasons of Deficit of a carnitine:

The carnitine - biologically active vitaminopodobny agent - was found in a human body at the beginning of the XX century. The metabolic role of a carnitine was rather fully deciphered only within the last decades. Its main functions are participation in energy balance, binding and removal from an organism of toxic derivative organic acids.

The important role of a carnitine in biopower processes is that it is directly involved in a catabolism of lipids. Karnitinzavisimy enzymes - an acylcarnitine-karnitintranslokaza, karnitinpalmi-toiltransferaza of I and II - provide transfer of long-chain fatty acids in the form of esters (atsilkarni-tin) from cytoplasm through an outer and internal mitochondrial membrane in a matrix of mitochondrions. In mitochondrions fatty acids are exposed to β-oxidation with education atsetil-KOA which serves as substrate for a cycle of tricarboxylic acids of Krebs and the subsequent synthesis of ATP in an organism. Along with it oxidation of fatty acids - the main way of a ketogenesis, and ketonic bodies are an additional power source for peripheral fabrics and a brain.

Treatment of Deficit of a carnitine:

Treatment, as a rule, includes use of additives of a L-carnitine after assessment of degree of deficit which is defined by carrying out a muscular biopsy.