From Big Medical Encyclopedia

ENZIMOPATYI (enzyme[s] + Greek pathos suffering, disease; a synonym a fer-mentopatiya) — the general name of the diseases or morbid conditions developing owing to absence or decrease of the activity of these or those enzymes.

Allocate hereditary E., to-rykh genetically caused insufficiency of one or several enzymes, and acquired E is the cornerstone., developing as a result of various diseases, is more often than chronic. The following options of disturbances of activity of enzymes are revealed: 1) total block (switching off) of synthesis of enzyme; 2) decrease of the activity of enzyme; 3) disturbance of systems or biochemical reactions, from to-rykh depends activity of enzyme.

Feature of a current hereditary E. existence of the so-called eclipse period when the disease clinically is not shown is, but it can be suspected or established on the basis of biochemical blood analyses, urine or a calla. Usually first wedge, symptoms hereditary E. are found at early children's age, however in some cases the disease a long time can proceed asymptomatically, and is clinically shown at children at more advanced age or at adults. Numerous patol. the states caused by deficit of one or several enzymes are characterized by a big variety of a current; their forecast is various.

Classification hereditary E. it is not developed. On the basis of features of disbolism caused by absence or insufficient activity of this or that enzyme, hereditary E. divide by the following principle.

I. Hereditary diseases of exchange of amino acids: an alkaptonuria (see),

an aminoacidemia (see), albinism (see), a gipervalinemiya (see), a histidinemia (cm *) h a glitsinemiya (see), a homocystinuria (see), a giperlizinemiya (see the Lysine), a tyrosinosis (see), a tsi-stationinuriya (see), a cystinuria (see), a fenilketonuriya (see), a lactacidemia (see), an ochronosis (see).

2. Hereditary diseases of carbohydrate metabolism: glycogenoses (see), a galactosemia (see), a diabetes mellitus (see a diabetes mellitus), disakha-ridazny insufficiency (see Mal-absorbtsii a syndrome), a lactacidemia (see), dekarboksilazny insufficiency (see).

3. Hereditary diseases of lipidic exchange (see Lipidoses): a) lipidoses of blood serum; b) lipidoses with intracellular inclusions. The essential family lipidemia and a hypercholesterolemia (see), a lipoproteinemiya (see Lipoproteids), etc. concern to the first group; to the second — gangliozi-doses — a disease Teja — the Saxophone (see. An amaurotic idiocy), Laurence's syndrome — Muna — Grain stillage — Bidlya (see Laurence — Muna — Bidlya a syndrome), Batten's disease — Shpil-meyera — Vogt (see. Amaurotic idiocy); sphingomyelinoses — Nimann's disease — Peak (see Niman-on — Peak a disease), tserebrozido-za — a disease to Gosha (see Gosha a disease), etc.

4. Hereditary diseases of purine and pirimidinovy exchange: gout (see), a xanthinuria (see Xanthine), allocation with urine r-amino-oil (see. Aminobutyric acids) and orotovy (see Orotovaya acid) to - t with urine, Lesh's syndrome — Naykhana (see Gout, Purine exchange).

5. Hereditary diseases of steroid exchange — an adrenogenital syndrome (see), Kohn's syndrome (see Ald an oster of ohm).

6. Hereditary diseases of exchange of bilirubin: Krigler's syndrome — Nayara, Gilbert's syndrome — May-lengrakhta, a syndrome the Cudgel — Johnson, a syndrome of the Rotor (see Hepatoses, Jaundice).

7. Hereditary diseases of exchange of metals: hemochromatosis (see), hepatocerebral dystrophy (see).

8. Hereditary diseases of porphyrinic exchange (see Porphyrias).

9. Hereditary diseases of exchange of connecting fabric: mukopo-lisakharidoza (see), a syndrome Marfa-on (see Marfan a syndrome), a chondrodystrophia (see the Chondrodysplasia).

10. Hereditary diseases of blood and hemopoietic bodies: hemophilia (see), an inborn microspherocytosis, or Minkowski's disease — Shoffara (see. Hemolitic anemia), Kostmann's syndrome (see the Agranulocytosis).

I. The hereditary diseases of exchange caused by defect of enzymes of tubules of kidneys with disturbance of transport of various substances — tubulopatiya (see): a family hypophosphatemia (see Fosfat-emiya), de Tony's syndrome — Debra — Fankoni (see De Tony — Debra — Fankoni a syndrome), a hypophosphatasia (see), etc.

12. The hereditary diseases of a metabolism caused by defect of enzymes went. - kish. path: a Gee's disease (see), a mucoviscidosis (see), an exudative enteropathy (see the Enteropathy exudative), a sprue (see Malabsorption a syndrome), a gluten disease (see).

13. The hereditary anomalies caused by defect of protein synthesis of plasma and immunoglobulins (disproteinemia): an analbuminemiya (see), an agammaglobulinemia (see), a dysgammaglobulinemia (see).

The careful genealogical analysis is necessary for detection of hereditary pathology of a metabolism (see. Genealogical method), and also purposeful profound clinical laboratory inspection. Major importance in diagnosis hereditary E. when they clinically are not shown, have the biochemical methods of a research, and also screening tests (see Screening) more and more widely implemented in a wedge, practice. Progress of early diagnosis with the help screening tests hereditary E., when the disease is not shown yet or there are only insignificant disturbances of exchange without development irreversible morfol. changes, promoted development of the actions directed to early correction of metabolic disturbances. For this purpose apply to lay down. food (see clinical nutrition) with an exception of the products containing substances, metabolism to-rykh in connection with deficit of the corresponding enzyme it is broken; also special foodstuff is created. Further progress in treatment hereditary E. can be connected with development of genetic engineering (see). Prevention hereditary E. consists in carrying out medicogenetic consultation (see. Medicogenetic consultation).

One of the most frequent options acquired E. are alimentary E. — the permanent disturbances of activity of enzymes connected from characters ^пртания that leads to development swayed. states. Distinguish from them: 1) toxic E., the activities caused by the natural components of foodstuff or alien substances contaminating them, and connected with selective oppression or biosynthesis of separate enzymes and with nonspecific oppression of biosynthesis of protein; 2) actually alimentary E., caused by deficit of protein, vitamins, microelements and imbalance of a food allowance in general.

Selective oppression of activity of proteinases (see Peptid-gidro-lazy) went. - kish. a path — trypsin (see), chymotrypsin (see), elastases — cause rather thermostable specific proteinaceous inhibitors found in many foodstuff of plant and animal origin — in soy, haricot, peas, wheat and other cereals, in rice, eggs of poultry, colostrum of a cow. Forming resistant complexes with proteinases, these inhibitors break process of a proteopepsis of food and reduce their comprehensibility.

Specific oppression of biosynthesis of a number of enzymes is observed at insufficiency of coenzymes — water-soluble vitamins (see Coenzymes), caused by presence at foodstuff of the corresponding antivitamins — the substances having ability to reduce or to completely liquidate specific effect of vitamins by their destruction or competitive substitution in structure of a molecule of enzyme. So, the structure of many vegetables, fruit and berries includes the ascorbate oxidase responsible for transformation of ascorbic acid (see) in and-degidroaskorbinovuyu and further — in diketogulonic to - that. Many species of fresh-water fishes, in particular cyprinid, contain the enzyme catalyzing hydrolytic decomposition of thiamin (see) — a thiaminase (see). In crude eggs there is a protein the avidin (see) forming in a digestive tract a resistant complex with biotin (see). An antagonist of a pyridoxine (see) is linatin, allocated from seeds of flax. From corn low molecular connections niatsitin and niatsinogen, having antiniatsinovy activity are allocated (see Niacin). Suppression of activity of the enzymes containing sulphhydryl groups (see) is observed at influence of such eurysynusic anthropogenous pollutants of foodstuff as the mercury, arsenic and other heavy metals which are actively reacting with these groups of proteinaceous molecules.

Toxic E., caused by nonspecific oppression of biosynthesis of protein, can be caused by the pesticides contaminating foodstuff, napr, ditiokarbamatno-go a row, and mycotoxins — aflatoxins (see), ochratoxin A, rub-hotetsenovymi mycotoxins, etc.

The most studied actually alimentary E. the diseases connected with long deficit of protein in food and which are shown in especially severe form at children of younger age are (see the Kwasiorkor). To development E. this type can give also different types of a vitamin deficiency (see) in connection with disturbance of biosynthesis of coenzymes, napr, tiamindifosfa-that at deficit in food of thiamin, flavinmononukleotid and dinucleotides — at insufficiency of Riboflavinum, pyridoxal phosphate — at deficit of a pyridoxine, etc. Are known numerous E., connected with oppression of synthesis of metallofermen-t at deficit in a diet of the corresponding mineral substances (see) — calcium, magnesium, zinc, cobalt, iron, etc., their active centers which are necessary structural components. AA. can arise not only at deficit of separate feedstuffs, but also at the expressed disbalance of a food allowance in general — an amino-acid imbalance, ratio distortion between fat to-tami, water-soluble and fat-soluble vitamins, mineral substances. At the heart of this type E. not only quantitative insufficiency of feedstuffs in a diet can lie, but also disturbance of normal receipt them from went. - kish. a path in blood — hron. diarrhea (see Ponosa), a mucosal atrophy of intestines, to a spr (see) etc.

Treatment alimentary E. it is based on stimulation of biosynthesis or a proteinaceous, or prosthetic part of enzymes by additional introduction to a food allowance of missing feedstuffs — proteins, amino acids, vitamins, mineral substances, etc. In necessary cases dietary or medicamentous correction of disbolism, processes of digestion and absorption is carried out in went. - kish. path. Toxic E. demand specific and symptomatic therapy depending on etiol. the factor which caused a disease.

The balanced balanced diet providing fiziol. the needs of an organism for feedstuffs and energy, is a basis of prevention of alimentary E. Gig. regulation of structure to food-bykh of products and organization of system of the prevention of pollution their harmful alien chemical and biol. provide with substances prevention toxic E. It is necessary to refer both the adequate technological and culinary processing of foodstuff promoting preservation of vitamins and other nutrients, and also destruction or an inactivation of harmful natural components, such as inhibitors of proteinases, antivitamins, etc.

Bibliogr to preventive actions.; Badalyan JI. The lake, Thabo l and V. A. N and In e l t and shch e in Yu. E. Hereditary diseases at children, M., 1971; Barashnev Yu. I. and Velti-shch e in Yu. E. Hereditary diseases of a metabolism at children, JI., 1978; Mu forces Ya. Fundamentals of biochemistry of pathological processes, the lane from Czeches., M., 1985; Pokrovsky A. A. Metabolic aspects of pharmacology and toxicology of food, M., 1979; Tutelyan V. A. and Kravchenko L. V. Mycotoxins, M., 1985; Adverse effects of foods, ed. by E. F. P. Jelliffe a. D. B. Jelliffe, N. Y. — L., 1982;

Toxicants occurring naturally in foods, Washington, 1973.

V. A. Tabolin, V. A. Tutelyan.