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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, RES. Etiology: sphingomyelinase defect inherited autosomal recessive. Diagnostic criteria Clinical: early onset and malignant course of the disease, delayed psychomotor development, spastic tetraparesis, deafness, blindness; progressive hepato- and splenomegaly; brown shade of the skin, on the fundus - a cherry red spot. Laboratory data: detection of punctured bone marrow and spleen Nimann-Peak cells; enzymatic diagnosis (examination of skin fibroblasts or leukocytes after sonication) - the establishment of a metabolic block. Gaucher disease An inherited disease of lipid metabolism associated with the accumulation of cerebrosides in the cells of the nervous and reticuloendothelial systems. Etiology. The disease is caused by a defect in the lysosomal enzyme inherited in an autosomal recessive manner. Diagnostic Criteria The acute form of Gaucher disease (childhood type): from the first months of life, a delay in physical and neuropsychic development, malnutrition, muscle hypertension, opistotonus, convulsions, trismus; hepatosplenomegaly, respiratory failure. Change in the skeletal system, the appearance of pain during movement in the tubular bones, fatal outcome at 1 cm year of life. Chronic form (juvenile type): can be at any age; splenomegaly, anemia, hemorrhagic syndrome; skeleton deformation; brown or ocher pigmentation on the front of the legs. Laboratory studies: detection of Gaucher cells in punctates of bone marrow, spleen, lymph nodes. Tay-Sachs disease It is based on impaired ganglioside metabolism with their increased deposition in the gray matter of the brain, liver, and spleen. Etiology.
Defect of hexosaminidase. The type of inheritance is autosomal recessive. Diagnostic criteria: manifests itself in 3-4 months; the child is lethargic, inactive, loses interest in the environment; refusal of food, vomiting, regurgitation; delayed psychomotor development, hepatosplenomegaly; progressive degradation of intelligence up to idiocy; various paralysis, including pseudobulbar disorder with swallowing; atrophy of the nipples of the optic nerves and a cherry-red spot in the macular region; decreased activity of hexosaminidase. Deafness and blindness develop. Children quickly lose weight and in 1-1.5 years death occurs.
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- Lipid metabolism
Lipids include unsaturated and saturated fatty acids, mono-, di- and triglycerides (TG), cholesterol, phospholipids (phosphoglycerides and phosphosphingolipids), glycolipids (cerebrosides, gangliosides and glycosyl diglycerides), sterols and waxes. Fats (neutral lipids) of animal and vegetable origin are 94–98% composed of mixtures of TG. The daily need for fats is an average of 80-100 g. Lipids
- Disorders of interstitial lipid metabolism
This concept includes a violation of the integration of lipid and carbohydrate metabolism, manifested in the form of ketosis syndrome. The central integrative role of various types of metabolism is played by the universal catabolite - acetyl-CoA. In the liver, it appears as a result of the oxidation of FAs, glucose, and amino acid derivatives. The fate of acetyl-CoA is as follows: part is metabolized in the Krebs tricarboxylic acid cycle, part
- Impaired lipid metabolism.
Of great importance to the body are minerals. In particular, calcium ions regulate a number of the most important processes: blood coagulation, neuromuscular excitation, muscle contraction, enzymatic reactions, the release of hormones and their intracellular effect. They are also involved in maintaining membrane integrity and transmembrane transport. Calcium is ingested with food (0.5-1 g / day),
- Inherited metabolic diseases
Hereditary metabolic diseases are a monogenic pathology in which gene mutation entails certain pathochemical disorders. The classification is as follows. 1. Inherited diseases of amino acid metabolism: alkaptonuria, albinism, hypervalemia, histidinemia, homocystinuria, leucinosis, tyrosinosis, phenylketonuria. 2. Hereditary carbohydrate metabolism diseases: galactosemia, glycogenosis, disaccharidase
- Amino Acid Exchange Diseases
Phenylketonuria Hereditary diseases in which the transport of amino acids through the intestinal mucosa and tubules of the kidneys is impaired or their catabolism is changed due to a deficiency of enzymes or coenzymes. General diagnostic criteria for amino acid metabolism disorders require additional laboratory examination: 1) a combination of mental retardation with visual pathology (homocystinuria, insufficiency
- Phytotherapy of metabolic diseases
Metabolism (metabolism) is the basis of life and is the most important specific feature of living matter that distinguishes living from nonliving. Its essence is the process of continuous ingestion of various organic and inorganic compounds into the body from the outside, their assimilation, alteration and elimination of the resulting decomposition products into the environment. Metabolism
- HEREDITARY DISEASES OF EXCHANGE OF SUBSTANCES WITH DEFEAT OF THE NERVOUS SYSTEM
Hereditary diseases accompanied by metabolic disorders develop as a result of changes in genetic information. If the formation of a certain trait is presented as reading the hereditary code written on the central nervous system, and its implementation through a complex chain of biochemical transformations, then hereditary metabolic diseases can be considered as a kind, genetically
- Metabolic diseases
- METABOLISM DISEASES
DISEASES OF EXCHANGE
- Diseases that occur with a violation of mineral metabolism
Osteodystrophia (osteodystrophia) is a chronic disease of adult animals, characterized by softening, deformation and brittle bones, resulting from a violation of phosphorus-calcium and D-vitamin exchanges. Depending on the origin, there are alimentary, puerperal and enzootic osteodystrophies. The disease is often recorded in cows during pregnancy or after 1 - 1.5
- Diseases that occur with a violation of vitamin metabolism
Hypovitaminosis A (hypovitaminosis A) is a severe chronic disease, manifested by a sharp decrease in body resistance, dystrophic changes in epithelial tissue, visual impairment, growth and development retardation, arising from a deficiency in the body of retinol (vitamin A) or its provitamin - carotene. It is noted in all species of animals, mainly young animals are ill.
- Pathology of the interchange of proteins (violation of amino acid metabolism)
The main pathways of protein interstitial metabolism are the reactions of transamination, deamination, amidation, decarboxylation, methylation, and sulfonation. The central place in the interchange of proteins is the transamination reaction as the main source of the formation of new amino acids. Violation of transamination can occur as a result of a deficiency in the body of vitamin Wb.
- The concept of body lipids and food
Lipids are a large group of organic compounds with characteristic features: insoluble in water, soluble in ether, acetone, chlorocarbon solvents, contain higher alkyl radicals, have the structure of esters with the participation of fatty acids and alcohols. Simple lipids contain only carbon, hydrogen and oxygen and are hydrolyzed to fatty acids (FAs) and alcohols. To them
- Impaired lipid transport
In plasma, lipids circulate in complex with proteins, acquiring solubility. 5% of absorbed non-esterified fatty acids (NEFA) are transported in compounds with albumin, the remaining fats are transported in the form of particles - LP. Depending on the chemical composition, at least 5-6 classes of drugs are distinguished. Some are rich in TG, others are XN, and others are PL. Their informational difference is determined by apoproteins.
- Anemia due to a violation of the structure of lipids of the erythrocyte membrane
Hereditary acantocytosis Hereditary acantocytosis is a heterogeneous group of hereditary hemolytic anemia characterized by a violation of the lipids of the erythrocyte membrane and the appearance of acanthocytes in the peripheral blood. Acanthocytosis can be acquired (with neurogenic anorexia, hypothyroidism, liver diseases, vitamin E deficiency, etc.) and congenital. A characteristic sign of acanthocytosis
- Pathology of accumulation. Violation of protein, lipid, carbohydrate and mineral metabolism. Imbalance in nucleic acid metabolism. Hyaline changes. Pathology of chromoproteins.
1. Intracellular accumulations result in 1. hyperlipidemia 2. insufficient excretion of metabolites 3. accelerated excretion of exogenous substances 4. accelerated excretion of metabolic products 5. impossibility of excretion of exogenous substances 6. accelerated formation of natural metabolites 7. accumulation of metabolites due to genetic defects 2. Dystrophy called 1. lethal damage
- Violation of lipid transport and their transition into tissues
In the blood, all fractions of lipids that are contained in human tissues are represented. Chylomicrons (ChM) are formed in the wall of the small intestine - large spherical particles that are 90% TG. Through the lymphatic system of the intestine, through the thoracic lymphatic duct, they enter the bloodstream, and then into the liver. Very low density lipoproteins (VLDL) and high lipoproteins are synthesized in the liver
- Hypercholesterolemia and altered lipids n lipoproteins
Low density lipoproteins (LDL), especially modified as a result of oxidation, glycosylation, are the main cause of damage to the endothelium and the smooth muscle cells underlying it. When LDL particles are absorbed by the arterial wall, they are gradually oxidized and absorbed by macrophages. Oxidized LDL is recognized using the scavenger receptor (scavenger receptor),
- What are lipids and lipoproteins? Their importance in the life of the body.
Blood lipids (fat-like substances) include cholesterol (cholesterol), triglycerides and phospholipids. About 700-1000 mg of cholesterol is synthesized in the body and approximately 300-500 mg comes from food. The synthesis of cholesterol is carried out in the cells of almost all organs and tissues, but in significant quantities it is formed in the liver - 80%, in the wall of the small intestine - 10% and the skin - 5%. Cholesterol has a complex heterocyclic steroid