about the project
Medical news
For authors
Licensed books on medicine
<< Previous Next >>


Enzymopathy is a pathological condition caused by the absence, deficiency or violation of the structure of certain cellular enzymes that provide digestive processes.

The clinical picture is due to impaired absorption through the mucous membrane of the small intestine of one or more nutrients. Clinical manifestations of malabsorption syndrome in the form of diarrhea, weight loss, protein deficiency, signs of hypovitaminosis.

Malabsorption syndrome can be primary (hereditary) or secondary (acquired). Classification. Pathogenetic classification.

1. Exocrine pancreatic insufficiency:

1) cystic fibrosis of the pancreas;

2) chronic malnutrition with protein and calorie deficiency;

3) Schwachman-Diamond syndrome;

4) chronic pancreatitis with exocrine insufficiency;

5) specific enzymatic defects (lipases, trypsinogen).

2. Bile acid deficiency:

1) obstruction of the biliary tract (atresia of the biliary tract, cholelithiasis, cancer of the head of the pancreas);

2) resection of the ileum;

3) cirrhosis of the liver, chronic hepatitis (decreased secretion);

4) dysbiosis.

3. Disorders of the stomach:

1) postgastrectomy syndrome;

2) vagotomy;

3) malignant anemia caused by a deficiency of vitamin B12.

4. Motor impairment:

1) hyperthyroidism;

2) diabetes mellitus;

3) scleroderma;

4. amyloidosis.

5. Pathology of the intestinal mucosa:

1) celiac disease;

2) lactase deficiency;

3) sucrose and isomaltase deficiency (combined);

4) exudative enteropathy;

5) intolerance to protein of cow's milk (and / or soy);

6) enterokinase deficiency;

7) abetalipoproteinemia (Bassen-Kornzweig syndrome);

8) violation of the transport of amino acids (tryptophan, methionine, lysine, etc.);

9) vitamin B12 malabsorption (transcobalamin-II deficiency);

10) congenital disorders of the processes of absorption of folic acid;

11) bleeding diarrhea;

12) vitamin D-dependent rickets;

13) enteropathic acrodermatitis;

14) Menkes syndrome (curly hair syndrome);

15) Crohn's disease;

16) malabsorption after transferred enteritis;

17) tropical sprue;

18) Whipple's disease;

19) chronic infections (immunodeficiency), in particular giardiasis;

20) primary immune deficiency (Wiskott — Aldrich syndrome);

21) congenital short intestine;

22) short bowel syndrome after resection (resection of the proximal small intestine, ileum resection, ileocecal resection);

23) eosinophilic gastroenteritis.

Etiology. The etiology in each case is different (the absence or reduced activity of lactase, a-glucosidase, enterokinase). Among the hereditarily caused impaired intestinal absorption, disaccharidase deficiency (sucrose, lactase, isomaltase), true celiac disease (gliadin intolerance), enterokinase deficiency, monosaccharide intolerance (glucose, fructose, galactose), amino acid absorption disturbance (cystinuria, drone) are found. malabsorption of vitamin B12 and folic acid, etc. Secondary, or acquired, malabsorption occurs in many chronic diseases of the stomach and intestines (punk eatity, hepatitis, dysbacteriosis, psoriasis, Crohn's disease, etc.).

Clinic. The clinical picture in children: chronic diarrhea with a high content of lipids in the feces dominates.
Dystrophy gradually develops, children lag behind in growth. Clinical manifestations of vitamin deficiency, impaired water-electrolyte balance (dry skin, seizures, glossitis, hypokalemia, hyponatremia, hypocalcemia, etc.) are added. Pancreatic digestion deficiency syndrome is characterized by (pancreatic steatorrhea): creatorrhea with a predominance of unchanged muscle fibers, steatorrhea, represented by neutral fat, amylorrhea (extracellular starch). For the syndrome, impaired bile flow are typical (hepatogenic steatorrhea): steatorrhea (with a predominance of fatty acids against a background of less neutral fat with a complete absence of soaps), creatorrhea is possible (altered muscle fibers prevail).

Intestinal diarrhea is characterized by steatorrhea, represented mainly by soaps and fatty acids.

Diagnostics. Methods of paraclinical examination.

1. General blood test.

2. General urine analysis.

3. Feces for giardia, helminth eggs, scraping for enterobiosis.

4. Coprogram (expanded, expanded): starch, neutral fat, fatty acids, connective tissue, iodophilic microflora in normal feces are absent.

5. Biochemical research of blood serum: proteinogram, functional liver tests (ALT, AST, alkaline phosphatase, bilirubin, cholesterol), K, Fe, Ca, P, folic acid, vitamin B12, carotene).

6. Sugar curve - a flat sugar curve indicates diffuse damage to the mucous membrane. It should be noted that glucose testing is carried out on an empty stomach, after 15-30, 60-120 minutes.

7. d-xylose test. d-xylose is a pentose absorbed passively through an intact mucosa. It is excreted by the kidneys. With malabsorption, most xylose is lost with stool and does not reach the circulatory system. Not less than 30% is excreted in the urine, i.e. more than 1.25 g from the administered per os (5 g). (PS According to studies conducted, this test has a direct correlation with the glucose load test. Given the complexity of the d-xylose test).

8. Load tests with lactose, maltose, sucrose, starch. When loaded with lactose, the rise in the product of the breakdown of lactose in the blood after oral administration of 50 g of lactose by less than 20% indicates a lack of lactase.

9. Chromatographic identification of carbohydrates, amino acids contained in urine.

10. Hydrogen breath test: Determination of the amount of hydrogen in the exhaled air after loading with sugars at a dose of 2 g / kg (up to a maximum of 50 g). The test is based on the fact that if sugar is not adsorbed in the upper sections of the small intestine, then it reaches the distal sections, in which intestinal bacteria act on it to produce hydrogen. The latter is rapidly absorbed and exhaled in a measurable amount. An increased amount of exhaled hydrogen (more than 20 g / million during the first 2 hours) is considered a pathology. (PS In patients taking AB, and in about 2% of healthy individuals, there is no hydrogen-producing intestinal flora).

11. Sowing feces for dysbiosis.

12. The study of pancreatic enzymes in the blood and urine.

13. Ultrasound of the pancreas, liver, gall bladder.

14. Determination of chlorine (Cl) in sweat fluid. If necessary, a molecular genetic study for cystic fibrosis.

15. X-ray of the digestive tract - information about the time of passage of barium through the intestines, damage to the mucous membrane, the presence of stricture or tumor.

16. Gastroduodenoscopy with biopsy. A small bowel biopsy helps in the diagnosis of celiac disease, with many other diseases it is not indicative.

17. Colonoileoscopy with biopsy.

<< Previous Next >>
= Skip to textbook content =


  1. Tutorial. Enzymopathies, 2011
    The training manual provides an analysis of the latest literature data on the problem of intestinal enzymes, taking into account the course of diseases, the difficulties of their diagnosis, therapeutic treatment. Presented are modern classifications of this pathology, principles of patient management; practical recommendations for the diagnosis and treatment of food intolerance are given, taking into account the possibilities and traditions
  2. Mental retardation with monogenic diseases
    Monogenic diseases are a heterogeneous group of conditions that differ both in the specificity of mutations, the characteristics of pathogenesis, and in the clinical picture. The group of monogenic diseases with mental retardation includes some hereditary metabolic diseases, connective tissue diseases, isolated forms of microcephaly, hydrocephalus and a number of other diseases. As it was
  3. Anemia due to a change in the activity of erythrocyte enzymes
    Glucose is the main source of energy for red blood cells. After penetration into the red blood cell, it undergoes metabolism along the path of anaerobic glycolysis (Embden-Meyerhof cycle) or along the path of the pentose cycle (hexose monophosphate cycle). Hereditary hemolytic anemia due to a decrease in the activity of red blood cell enzymes is most often associated with a deficiency of enzymes involved in
  4. Gene diseases
    The most typical gene diseases are hereditary metabolic diseases or molecular diseases. Their development is due to a change in the genes that regulate protein production. As a result of the changes, the formation of a specific protein is disrupted or completely stopped. Currently, more than 500 forms of such diseases are known. Gene diseases are conventionally divided into three groups: 1) developing in
    Congenital (familial) spherocytic hemolytic anemia (synonyms for Minkowski-Shoffar disease; hereditary spherocytosis). Anemia is associated with membranopathy. This is normochromic anemia. Microspherocytosis (erythrocyte diameter below 7.55 μm), reticulocytosis, decreased osmotic resistance of red blood cells (below 0.5%). With an exacerbation of the disease, the presence of clinical symptoms: splenomegaly, jaundice,
    (Vorobev A.I., 1988) Groups I. Non-immune hemolytic anemia (GA). 1. Hereditary and congenital: a) membranopathies associated with a violation of the protein components: • microspherocytosis, • elliptocytosis, • stomatocytosis, • pyropoikylocytosis; b) membranopathies associated with impaired lipid bilayer: • acanthocytosis, • deficiency of acetylcholinesterase activity; in)
  7. Chronic enterocolitis
    Enterocolitis is an inflammatory or inflammatory-dystrophic lesion of the small or large intestine, resulting in a chronic course of atrophy of their mucous membrane. The main clinical manifestations of Pain in the mesogastric region and throughout the abdomen (aching, pressing, stitching), worse after eating, physical activity, accompanied by impaired stool (diarrhea, constipation,
  8. Kidney disease
    Guided by the structural and functional principle, two main groups of kidney diseases, or nephropathies, can be distinguished: glomerulo- and tubulopathies, which can be acquired and hereditary. Glomerulopathies are diseases with primary and primary damage to the renal glomeruli, characterized by impaired filtration. Acquired glomerulopathies include glomerulonephritis,
    There are a lot of reasons that disrupt kidney function. By origin, they are classified into primary [hereditary, congenital (enzymopathies, tubulopathies, nephropathies, kidney developmental abnormalities)] and secondary (acquired) - infectious and non-infectious [oncological, post-traumatic, immuno-allergic, satellite (concomitant)]; both are exogenous and endogenous. By level
  10. Lipid Disease
    Lipidoses are part of an extensive group of hereditary diseases of accumulation, combined by the phenomenon of accumulation in the cells of various metabolic products. Nimann-Peak disease (sphingolipidosis) Hereditary enzymopathy, characterized by the accumulation of sphingomyelin in the brain, liver, and RES. Etiology: sphingomyelinase defect inherited autosomal recessive. Diagnostic criteria Clinical: early onset and
  11. Red blood cell enzyme tests
    Various metabolic processes occur in red blood cells: glycolysis, the pentose phosphate pathway for the oxidation of glucose, the reduction of glutathione, the destruction of hydrogen peroxide and other metabolic reactions. Violations of these processes can be associated with hereditary defects in the synthesis of enzymes (enzymopathy). The most common red blood cell fermentopathy is impaired synthesis
  12. Hereditary hemolytic anemia (primary)
    Erythrocytopathy. The most common is hereditary familial spherocytosis (microspherocytosis, Minkowski-Shoffar disease, protein-dependent membrane disease). The disease is inherited in an autosomal dominant way. The basis of its development is a defect in the structure of the erythrocyte membrane, which leads to a change in their shape from discoid to spherical. Such red blood cells do not deform even when
  13. Gout (code? 10)
    Definition Gout is a genetically caused disease (enzymopathy), which is based on an increase in purine synthesis, excessive formation of uric acid, leading to recurrent "crystalline" arthritis, systemic lesions in the form of uric acid nephropathy, urolithiasis, interstitial urate nephritis. Statistics. Asymptomatic hyperuricemia (above 0.07 g / l - 7.0 mg%)
  14. Glycogenosis
    A group of enzymopathies in which the breakdown and synthesis of glycogen are impaired, which leads to its accumulation in various organs (liver, kidneys, muscles) Etiology. The type of inheritance is an autosomal recessive disease, depending on the nature of the enzyme defect, 12 types are distinguished. Diagnostic criteria for type I are hepatorenal glycogenosis (Girke's disease). Clinical criteria: hepatomegaly (dense
  15. Renal glucosuria (renal diabetes)
    RENAL GLUCOSURIA (RENAL DIABETES) - a hereditary disease caused by a decrease in glucose reabsorption in the proximal tubule of the kidney, manifested by glucosuria without hyperglycemia. Its frequency is 2-3: 10,000. PATHOGENESIS. Two forms of the disease are distinguished: familial idiopathic (primary) and symptomatic (secondary). Primary renal glucosuria is inherited by
Medical portal "MedguideBook" © 2014-2019