3.Biochemical methods, their value.

Known over 1000 inherited diseases caused by defects in metabolism. According to the WHO classification hereditary defects metabolic disorders are divided into:

• amino acid metabolism.

• carbohydrate metabolism.

• lipid metabolism.

• steroid metabolism.

• purine and pyrimidine metabolism.

• anomalies exchange metals.

• metabolism in erythrocytes and the violation of their exchange and others.

To study the enzymatic disorders using methods enzymology. Are important not only quantitative changes in enzyme activity, but also qualitative differences in the functioning of normal and altered enzyme.

Application of biochemical studies showed suspected all hereditary metabolic disease and other forms of well established primary defect gene product managers. Biochemical methods can detect certain compounds lack or excess of their predecessors, and above all chromatographic methods (paper chromatography, ion-exchange resins in thin layers, gas-liquid chromatography, methods of electrophoresis, immunoelectrophoresis, and others.). Combining them with exercise testing significantly increases the informativeness of the study.

Hereditary defects metabolic biochemical diagnosis can be through:

• identifying abnormal protein structure (structural proteins or enzymes such as abnormal hemoglobins, false cholinesterase.

• identifying the intermediate products of metabolism that are due to genetic appear block direct exchange reaction. This is the most common method of diagnosing various enzimopaty.

4.The best known biochemical research methods:

1. Diagnosis of disorders of amino acid metabolism. To determine changes in amino acid metabolism examine the blood or urine patient.

2. Diagnosis glycozure. Known for more than 15 defects of carbohydrate metabolism. It is broken or synthesis of enzymes of carbohydrate metabolism or transport of carbohydrates in the renal tubules, or their absorption in the gut. These disorders are diagnosed by biochemical tests.

3. Test of mucopolysaccharides. A number of inherited disorders characterized by the appearance in the urine mucopolysaccharides. They show the breakdown of ortotuloyidynom or thin layer chromatography. Metabolic amino acids belong to a large group of diseases that occupy the leading place among metabolic disorders.

5.Diagnosis of disorders of amino acid metabolism

In humans, there are approximately 5 million proteins. Despite the diversity of protein structures for building them need only 22 amino acids, 9 of which are indispensable, that they are not synthesized in the human body and should be taken with food in sufficient quantities. The remaining amino acids can be synthesized by the human body.

Violation revenues synthesis or metabolism of amino acids in human pathological conditions arise that are inherited or acquired in nature. Hereditary changes can be detected since the first days of birth. These disorders are characterized by the accumulation of certain amino acids in the blood, or the products of their decay. To date, more than 90 inherited defects of amino acid metabolism that occur with some frequency in the human population.

Much larger group of diseases that have course in violation of metabolism of amino acids are acquired disease. Interesting is the fact that all violations of amino acid metabolism characterized by the presence of a latent period when the disease is almost evident clinically, but can be detected by biochemical, chromatographic and molecular genetic methods. Prevent the emergence of many disorders of metabolism of amino acids can be timely diagnostics and correction of amino acid metabolism.

The most common manifestations of metabolic amino acids are:

• chronic fatigue syndrome

• violation of appetite

• deterioration of the skin, hair

• muscle weakness

• stunting

• reduce the protective functions of the body

• disorders of the nervous and cardiovascular systems, and others.

There are several methods for the determination of amino acids. One of the most modern methods is the method of liquid chromatography. In a centralized department automated laboratory diagnostic Rivne Regional Clinical Diagnostic Center named Viktor Polishchuk implemented and successfully used for the quantitative determination of amino acids by liquid chromatography with derivatization. This technique allows to detect quantitatively in plasma over 30 amino acids. Equipment of this class is the only one in Ukraine.

 Metabolism of amino acids. Treatment

In most cases, this amino acid metabolism disorders - autosomal recessive disorders.

Alkaptonuriya - the first of enzimopaty described in humans. Manifested dark urine immediately after birth. In the future, due to the accumulation in tissues homohentyzynovoyi acid darker sclera and mucous membranes. At the age of 10 - 12 years has developed vayutsya ohronoznyy arthritis and diseases of the cardiovascular system. Because genetic defect homo-hentyzynoksydazy disturbed metabolism of phenylalanine and tyrosine. Inherited alkaptonuriya for AR-type.

Treatment includes restriction of phenylalanine and tyrosine content in food, the use of large doses of ascorbic acid to improve the oxidation processes.

Phenylketonuria - impaired metabolism of phenylalanine in the earlier stages of it. Manifested in the first months of life (usually at age 6 - 9 months) developmental delays. The child has blonde hair and eyes (due to violation of the synthesis of pigments), skin pigmentation is not. Observed mental retardation, convulsions, characterized mouse smell. Often there are eczema, dermatitis, sensitivity to light, pastoznost, strabismus, nystagmus. The disease is caused by the absence or decreased activity of the enzyme feshlalanin-4-hydroxylase. With pathomorphological study is hliozne degeneration of the brain. Inherited phenylketonuria for AR-type. In order to detect preclinical disease resort to mass screening of newborns.

Treatment. Given the early appointment of a diet that restricts phenylalanine intake (diet foods "Berlafen", "Tsymohran", "Minafen", "Aponti"), and strict medical control physical and mental development of children is not violated. Without diet in 100% of cases develop severe mental retardation, idiocy. More than the percentage of people of Slavic descent are carriers of the mutant gene.

Arhininemiya convulsions, vomiting shortly after birth. Subsequently added hepatosplenomegaly, microcephaly, paraparesis, mental and physical development. In the blood and cerebrospinal fluid increases the concentration of arginine. Carriage papillomavirus Shoupa that synthesizes arginase leads to decrease of arginine levels. Inherited arhininemiya for AR-type.

Albinism - a group of diseases caused by defective metabolism of melanin, which is formed from tyrosine. There tyrozynazopozytyvnyy and tyrosine-zonehatyvnyy albinism (with hemorrhagic diathesis). There are forms of the disease with deafness and hearing intact. Inherited from DR-, AR-, HR-type.

In addition to the violations of amino acid metabolism, aminoatsydemiyi are associated with defects in transport systems, in particular - genetic defects of the urinary organs.

Celiac disease - a hereditary pathology observed frequently (1:3000). It is associated with deficiency of enzymes that break down hliodyn - part of the protein gluten, which is a part of wheat, rye, barley, oats, ie all crops. The pathology seen after the introduction of complementary foods as cereals, breads, mostly end of the first year of life. Because toxic effects hlyutaminpeptydu patients die ciliated epithelium intestines. Violated the absorption of nutrients. Observed enteropathy, dehydration, frequent emptying liquid consistency, malnutrition. Celiac disease is inherited in AR-type.

Treatment consists of elimination from the diet cereals (semolina, oats, pearl), bread.

Nowadays there are ahliodynovi grains derived by breeding varieties suitable for the mutant gene. Products of the cereals and flour can be given to children who suffer from celiac disease.