Enzymopathies

Enzymopathies (fermentopathy) in the wide sense of the word - pathological change of activity of enzymes. In a narrower sense, the term refers hereditary diseases in which, owing to change of activity of enzymes violated during the relevant biochemical reactions in the body and developed a metabolic disease. Got enzymopathies most often observed in children after a severe, chronic diseases (such as dysentery may develop insufficiency disaccharides intestine).
The state of newborns when enzymopathies often mistakenly regarded as consequences of severe birth trauma.
About hereditary enzymopathies should think at backlog child in psychophysical development and resistant dystrophy. Enzymopathies can be accompanied by phenomena of toxic symptom complex, characterized by signs resistant rickets, osteodystrophy, kidney damage.
The number of genetic enzymopathies proceeds without noticeable violations of the General condition of the patient: zistinurija, pentosuria, albinism. More often hereditary enzymopathies in children is characterized by a violation of the exchange of amino acids, for example, vinilpirrolidona mental retardation, alkaptonuria. There are pathological condition caused by the violation of processes reabsorption in the renal tubules (phosphatase, syndrome de Toni - Debre - Fanconi's syndrome)is associated with impaired metabolism of carbohydrates (galactosemia, fructosamine, glycogenic disease) and bilirubin (syndrome, criglernajjar Najjar syndrome, Gilbert's disease).

Enzymopathies (fermentopathy) in the wide sense of the word - pathological change of activity of enzymes. In a narrower sense, the term refers hereditary diseases associated with the existence of unit in enzyme systems, resulting in disrupted during the relevant chemical reactions and develop disease exchange.
The most common is the complete or partial absence of enzyme activity, although there are hereditary enzymopathies, when the activity of enzymes is too high or there is a formation of pathological enzymes. The reason enzymopathies are mutations of genes responsible for the synthesis of a protein molecule enzyme, which are expressed in the loss of the matrix of the nucleic acid or the modification of their structure. The following variants are possible violations of the synthesis of enzymes: 1) the enzyme synthesized at all, because there is no nucleic acid matrix; 2) the sequence of amino acids in the enzyme molecule; 3) missing or incorrectly synthesized coenzyme; 4) the activity of the enzyme is changed in connection with abnormalities in other enzyme systems; 5) the blockade may be due to the genetically predetermined synthesis of substances that inactivate the enzyme. The absence or reduced enzyme activity creates conditions for accumulation in the body components prior blocked reaction or formed as a result of its perversion and often having toxic effects. This situation is created when hereditary diseases of metabolism of amino acids, for example, vinilpirrolidona mental retardation (see). Violation of the processes of glycogenolysis is accompanied by accumulation of glycogen in the cells, the development of glycogenic disease (see). Pathological manifestations violated exchange can occur due to lack of products generated during the normal course of the reaction. As an example we can cite the lack of glucose in one of the types of glycogenic disease, and the degree of hypoglycemia largely determines the severity of the clinical picture. Enzymatic block in the processes of biosynthesis of corticosteroids leads to the development of insufficiency of the adrenal cortex for lack of hydrocortisone. It is possible for the predecessors blocked reaction does not have a direct toxic effect on the organism, but inhibit other enzyme systems.
The effect of fructose-I-phosphate on the processes of glycogenolysis if fructosamine (see) leads to the development of hypoglycaemia. Education pathological enzymes leads to appearance of non-physiological protein molecules, as is the case in sickle cell anemia and other anemias associated with the production of abnormal type of hemoglobin. In some cases, enzymopathy not accompanied by the accumulation of toxic existing products and then abnormalities in metabolism discovered by accident (for example, pentosuria).