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Hereditary diseases associated with metabolic disorders, develop as a result of changes in genetic information. If the formation of a specific trait is presented as a reading of the hereditary code recorded on the TsNK, and its implementation through a complex chain of biochemical transformations, then the hereditary metabolic diseases can be viewed as a kind of genetically caused misinformation. In cases where the gene responsible for the synthesis of an enzyme or protein is altered, this error is repeated during cell division. It is enough for one sex cell to have such a “typo” so that the millions of cells originating from it have this defect. The normal formation of the body is disturbed, the disease develops.

The defeat of the nervous system in hereditary metabolic diseases is caused by a violation of the structure of genes responsible for the synthesis of proteins and enzymes directly or indirectly associated with the functioning of the nervous system. Pathology of metabolism leads to gross morphological and functional changes in the brain tissue and peripheral nerves.

Most of the metabolic diseases occurring with the defeat of the nervous system, due to recessive genes located in autosomes. The disease manifests itself in full form only if the homozygous state of the recessive gene is noted, in other words, if the “defective” gene is present in a double dose (one such gene is received from the father, the other from the mother). If the “defective” gene is in a heterozygous condition, i.e. it is suppressed by a healthy gene, the disease does not manifest itself. However, carriers of the pathological gene (heterozygotes) show mild metabolic disturbances, which can be detected with the help of special samples. Autosomal recessive forms of metabolic diseases usually manifest in childhood, rapidly progressing and, in the absence of appropriate treatment, early lead to gross disorders of body functions. Much less common forms of pathology with other types of inherited transmission - autosomal dominant or recessive, sex-linked, i.e. with the sex chromosome.

Currently, with many hereditary diseases, a specific biochemical defect has been established, which causes the onset and development of the pathological process. This made possible preclinical diagnosis and theoretical correction of metabolic disorders. In cases where the treatment is carried out at an early stage of the disease or before the onset of clinical symptoms, it is possible to prevent the development of irreversible changes in the body. The most effective diagnosis of metabolic diseases in the prenatal period on the basis of a biochemical study of amniotic fluid. However, this diagnostic method is just beginning to be introduced into clinical practice.

For the purpose of early detection of hereditary metabolic diseases, a two-stage system of clinical and biochemical examination is widely used, which allows identifying a group of children threatened by the development of hereditary diseases already in the first weeks and months of life. Children at high risk are subject to dynamic observation by doctors and a detailed biochemical examination, the purpose of which is to identify the pathology.

Depending on which type of metabolism is predominantly disturbed in a particular disease, hereditary metabolic diseases of amino acids, lipids, mucopoli saccharides, glycosaminoglycans, trace elements, carbohydrates, etc. are distinguished.

Hereditary metabolic diseases of amino acids are the most studied group of diseases. Improvement of diagnostic methods allowed to establish that among newborns the frequency of diseases in this group ranges from 1: 10,000 to 1: 100,000. The frequency of heterozygous carriers of the pathological gene is G. 100 - 1: 400.

In most diseases, fine biochemical disorders resulting in the formation of pathology have been studied. The genetic deterministic absence of certain enzymes produces that the amino acids in the body do not undergo further transformation, and their derivatives, which have a toxic effect on the nervous system, accumulate in tissues and biological fluids. Most metabolic diseases are clinically manifested in the first or second year of life by skin disorders, mental and motor developmental delay, convulsions.
These disorders are progressing, and later gross speech disorders, dementia, paresis and paralysis, coordination disorders can be formed. The rate of development of the disease and the nature of the disorders depend on the type of biochemical defect. Effective methods have been developed for the treatment of many diseases of amino acid metabolism, which are based on the exclusion from the diet of an amino acid that cannot be absorbed by the body.

In diseases caused by genetically determined disorders of lipid metabolism (fats), excessive accumulation of fat-like substances occurs in the cells of the nervous system and other organs due to the absence or insufficient activity of the enzymes involved in their further transformation. Such diseases are also called intracellular lipoidosis. The accumulation of lipids in the cells leads to their death. In a number of diseases, along with nerve cells, the pathways are equally affected. This group of diseases is called leukodystrophy.

Disorders of lipid metabolism usually occur in children. Behavioral disorders are observed, there is a decrease in intelligence, paresis and paralysis develop, the function of the analyzers is disturbed. Progressive symptoms lead to severe disability and complete mental degradation of patients.

Diseases occurring with lipid metabolism, diagnosed on the basis of the results of a thorough clinical and biochemical examination of the patient. Taking into account the links of the impaired metabolism, attempts are made to treat these diseases by injecting the missing substances.

In diseases occurring in violation of the exchange of mucopol-saccharides, there is a combined damage to the nervous system, blood vessels, musculoskeletal system, eyes, internal organs. The multiplicity of the lesion is due to the fact that mucopolysaccharides are part of the connective tissue, forming the basis of all organs and body systems. Inadequate formation of connective tissue and the accumulation of mucopolysaccharides in cells leads to the violation of many functions. The diagnosis is confirmed by determining the excess amount of mucopolysaccharides in the urine. A genetic defect is identified through the study of enzymes involved in the exchange of mucopolysaccharides. Substitution treatment methods are being negotiated, but they are not yet widespread. Hereditary disorders of carbohydrate metabolism are expressed in the fact that the body ceases to absorb the absorption of certain sugars due to the lack of certain enzymes. In these diseases, conditions often develop, accompanied by a sharp increase or decrease in the sugar content in the blood. The formation of metabolic by-products (keto acids) can cause metabolic and structural changes in the brain tissue. Clinical observation of children with impaired carbohydrate metabolism made it possible to really solve the issues of preclinical diagnosis of these diseases. Early diagnosis is closely related to the prevention of neurological disorders. Methods have been developed for the effective treatment of many genetically determined disorders of carbohydrate metabolism with the widespread use of diet therapy and special drugs. In this regard, the diseases of carbohydrate metabolism have a much smaller proportion in the pathology of the nervous system than metabolic disorders of amino acids, neurolipidosis, mucopolysaccharidosis.

At the present stage, the complexity of treating many metabolic diseases, especially with severe clinical symptoms, makes their prevention extremely topical. In a broad sense, the prevention of hereditary diseases includes primarily a set of social and hygienic measures aimed at improving the environment. Specific objectives of the prevention of hereditary metabolic diseases involve solving the question of the feasibility of childbearing, if there is a patient in the family with a hereditary form of pathology, identifying heterozygous carriers of the pathological gene using special stress tests, diagnosing the disease in the prenatal period, and if necessary, terminating the pregnancy. The prevention of hereditary metabolic diseases is dealt with by employees of specialized biomedical departments at large hospitals and medical-genetic consultations.
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