Causes, signs and treatment of metabolic disorders

Metabolic disorders (metabolism) are manifested at almost all levels of the biological systems of the body - cellular, molecular, and others. The most serious is a metabolic disorder at the cellular level, since it significantly changes the mechanisms of self-regulation and has a hereditary cause.

Metabolism is a complex of chemical reactions that fully correspond to their name, because metabolism in Greek means "transformation". Permanent metabolism, in fact, supports life in the human body, allowing it to grow and reproduce, to respond adequately to the impact of the external environment and preserve all its functions.

Fat, carbohydrates, proteins and other elements take part in metabolism, each of which plays its own role in metabolism. 

• The indispensable “building material” is proteins that have become famous for Engels’s historical phrases about life as a form of the existence of protein bodies. The statement of one of the fathers of Marxism corresponds to reality, where there are protein elements, there is life. Proteins are part of the structure of blood plasma, hemoglobin, hormones, cytoplasm, immune cells, and proteins are also responsible for the water-salt balance and fermentation processes. 
• Carbohydrates are considered a source of body energy resources, among the most important are glycogen and glucose. Also, carbohydrates are involved in the synthesis of amino acids, lipids. 
• Fats accumulate energy reserves, and give up energy only in combination with carbohydrates. Also, fats are needed for the production of hormones, the assimilation of certain vitamins, they are involved in the construction of the cell membrane, ensure the preservation of nutrients.

A metabolic disorder is a change in one of the metabolic stages — catabolism or anabolism. Catabolism or dissimilation is the process of oxidation or differentiation of complex elements to the state of simple organic molecules that can participate in the process of anabolism (assimilation) - synthesizing, which is characterized by energy consumption. The process of metabolism occurs throughout life according to the following steps: 

• Nutrients enter the human body. 
• Nutrients are absorbed from the digestive system, fermented and split, penetrating the blood and lymphatic system. 
• Tissue stage - transport, redistribution, release of energy and absorption of substances. 
• Excretion of metabolic decomposition products that the body has not learned. Excretion occurs through the lungs, with sweat, urine and feces.

[1], [2]

Causes of metabolic disorders

The causes of metabolic disorders, as a rule, belong to the hereditary factor, although they are not yet fully understood. The main role of the regulation of intracellular metabolism is genetically transmitted information. If genes begin to mutate, especially those that encode the synthesis of enzymes, metabolic defects develop. Mutations of transport and structural proteins, but to a lesser extent, also affect gene defects.

Also, the causes of metabolic disorders may be associated with pathological changes in the function of the thyroid gland, in the pituitary and adrenal glands.

One of the reasons may be improper diet of a person, as well as non-compliance with the norms of a healthy lifestyle. Both overeating, fasting, and fanatical devotion to new-fashioned diets, untested by time and nutritionists, can provoke a failure in metabolism.

[3], [4], [5], [6]

Metabolic disorders in children

Metabolic disorders in children and metabolic disorders in adults and sometimes differ dramatically. The children's organism develops intensively, therefore, it requires much more energy resources and plastic elements, which are produced thanks to the food that enters the body. Especially high metabolic rate in children under one year, when the basic system functions of the child are formed. Next, the child requires significant energy resources for the processes of assimilation and synthesis that promote development and growth. Since the central nervous system, the neurohumoral mechanisms and the endocrine glands are not stabilized, the regulation of metabolic processes in a child is imperfect. Therefore, metabolic disorders in children is a rather frequent phenomenon, especially in our time, when there is no culture of rational nutrition and compliance with the norms of physical activity. The consequence of metabolic disorders in a child can be such diseases: 

1. Anemia, which develops on the background of deficiency of protein components and iron. That is why as long as the children's body grows, it is very important to monitor the diet and the child's meal regime. Even if parents are fanatically devoted to the idea of vegetarianism, for a child, such a diet is a direct path to anemia. 
2. Rickets, which develops due to a deficiency of phosphorus and calcium or pathological features of the body, which prevent the absorption of calcium. Both calcium and phosphorus play an important role in the formation of the bone and cartilage system, especially in the first months of a baby’s life. 
3. Tetany or spasmophilia, which develops due to a failure in the phosphorus-calcium metabolism and an excess of calcium, against the background of previously diagnosed rickets. Spasmophilia is manifested by convulsive syndrome, spasms. 
4. Amyloidosis is a pathological disease that is triggered by a violation of the physiological level of metabolism. The disease manifests itself in the form of damage to the muscles of the kidneys or the heart, the reason - the deposition of structurally altered proteins in muscle tissues (amyloids). 
5. Hyperglycemia, which is a consequence of latent diabetes. 
6. Hypoglycemia (insulin shock) is a low level of glucose (sugar) in the blood due to stress or due to diabetes of the mother.

Metabolic disorders at any stage, both in adults and in children, provoke pathological changes in the functioning of body systems and are a serious threat to health.

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The first signs of metabolic disorders

Metabolic disorders show a variety of symptoms, among which the most characteristic is overweight, obesity. Next in the list of signs are swelling and changes in the structure of the skin, hair, nails. These are the most "visible" symptoms that should alert a person and encourage him to undergo examination and treatment.

Also in clinical practice are described in detail the diseases that are inevitably accompanied by signs of metabolic disorders. 

• Gout is a violation of the regulation of the exchange of uric acid, in which the kidneys and cartilage tissues accumulate salts, provoking an inflammatory process. 
• Hypercholesterolemia - disorders of dissimilation, lipoprotein catabolism, when the blood level of cholesterol increases significantly, and cholesterol accumulates in the tissues. Such an imbalance is one of the causes of cardiovascular diseases that are rapidly developing throughout the world. 
• Phenylketonuria - metabolic disorders of hereditary etiology, when the body lacks a specific enzyme - phenylalanine hydroxylase, which leads to mental disorders (developmental delay). 
• Gyrke disease - a glut of glycogen in the organs and tissues, which leads to hepatomegaly (enlarged liver), developmental delay - in growth, hypoglycemia. 
• Alkaptonuria - metabolic disorders due to gene mutation, when the gene responsible for the synthesis of oxidase, does not perform its function. This is a typical male disease that affects cartilage (spine, joints). 
• Albinism - the absence of the necessary pigment - melanin. The disease is caused by the impossibility of synthesizing tyrosine and phenylalanine and has a hereditary etiology.

In addition to these diseases, signs of metabolic disorders are characteristic of many other pathologies, as a rule, developing genetic deformation.

Symptoms of metabolic disorders

Symptoms of metabolic disorders may be different. They depend on what level of metabolism changes - molecular, cellular, metabolism in tissues and organs, or a holistic level. Any violation of the chemical metabolic process can provoke a disease. The causes of metabolic disorders lie in the dysfunction of the adrenal glands, pituitary, thyroid, heredity, and a metabolic disorder can cause unhealthy diets, most often, starvation. Changes in metabolic processes appear gradually, so the primary symptoms are most often not visible. The most manifest signs concern the violation of the holistic level, which includes the main types of assimilation and dissimilation of important components: 

1. Synthesis of proteins (proteins). 
2. Dissimilation (decay) of proteins. 
3. Synthesis of fats. 
4. Fat dissimilation. 
5. Synthesis of carbohydrates. 
6. Dissimilation of carbohydrates.

[8], [9]

How to recognize the first signs of metabolic disorders?

Metabolic disorders are the main symptoms: 

• A noticeable change in body weight - as a smaller, and in a big way, while maintaining the usual diet. 
• Lack of appetite, or vice versa - increased appetite. 
• The appearance of hyper or hypopigmentation. 
• Dental problems, mainly the destruction of tooth enamel.
• Disruption of the digestive system, diarrhea alternating with constipation. 
• Changes in the structure of nails and hair - dryness, lamination, fragility (hair - early gray hair, nails - white spots). 
• Dermatological problems - acne, skin rashes, less often - furunculosis. 
• Pallor of the skin, puffiness of the face and swelling of the limbs (pastoznost).

Diseases caused by metabolic disorders may be hereditary or acquired.

[10], [11], [12], [13]

Metabolic disorders, symptoms of hereditary diseases: 

Hypercholesterolemia - a violation of the collapse of lipoproteins, in consequence of which atherosclerosis develops. Signs and diseases: 

• numbness of the limbs (they often freeze); 
• cyanosis (cyanosis) of the skin; 
• cardiac pathology; 
• violation of concentration, memory; 
• hypertension; 
• nephropathology, diabetes. 

Girke disease is a congenital pathology associated with impaired enzyme function of the liver, in which the following symptoms occur: 

• hepatomegaly (enlarged liver);
• low-grade fever; 
• dyspnea; 
• growth retardation; 
• deviation from the norms of physical development;
• gypoglycemia. 

Gout is a change in the metabolism of uric acid, the deposition of salts in cartilage tissues, in the kidneys, accompanied by the following symptoms: 

• pain in the big toes; 
• inflammation of the joints of the feet; 
• swelling and redness of the joints of the feet; 
• increased body temperature; 
• the formation of tophi (subcutaneous nodes) in the elbow joints, in the auricles, and in the area of the heel tendons. 

Phenylketonuria is a genetic metabolic disorder, the symptoms of which appear before the age of one year and concern the central nervous system and mental development. As a result, changes in the metabolism of amino acids appear such signs: 

• lethargy, apathy, unusual for babies; 
• lethargy abruptly gives way to irritability; 
• lag in physical and mental development (low degree of oligophrenia or idiocy); 
• lag in anatomical development - small size of the skull, late teething, underdevelopment of the musculoskeletal system; 
• typical symptoms - a swinging gait, small steps, in a sitting position - a “tailor’s posture” due to hyper tone; 
• quite frequent cases of albinism (lack of melanin); 
• acrocyanosis (cyanosis) of the limbs; 
• gypotonia; 
• dermatitis. 

Alcaptonuria is a genetic disease when the activity of a homogentisinase (enzyme) is reduced and the breakdown of amino acids, tyrosine and phenylalalin, is disturbed. Symptoms: 

• dark urine from birth; 
• pronounced skin hyperpigmentation; 
• general weakness; 
• arthritis and osteitis; 
• osteoporosis ; 
• hoarseness

Metabolic disorders, the symptoms of which can be attributed to diseases caused by external factors and dysfunctions of the pituitary, adrenal glands, thyroid gland. As a rule, the deficiency or excess of amino acids, minerals or vitamins causes the following problems: 

Deficiency or excess of potassium in the body

Potassium is responsible for the functioning of the muscular system, is involved in the transmission of nerve signals (impulses), controls the acid-base balance, activates the processes of fermentation. Disruption of normal potassium levels provokes the following symptoms: 

• On the part of the nervous system - irritability, a decrease in concentration and memory, a decrease in all reflexes. 
• Since the cardiovascular system - hypotension, dizziness, arrhythmia (low potassium levels) or tachycardia (potassium excess). 
• On the part of the digestive tract - lack of appetite, nausea, up to vomiting, upset stool, flatulence, oppression of intestinal motility, abdominal cramps. 
• On the part of the muscular system - convulsions (calves), decreased physical activity, weakness, even weak paralysis. 
• On the part of the urinary system - impaired urination (frequent urge, abundant or decreased urination). 
• From the side of the acid-base balance - clear manifestations of acidosis (increase in acidity). 

[14], [15], [16], [17], [18]

Calcium Disorder

Changes in the rate of calcium in the body affects cellular functions, the formation of bone tissue, including dental, calcium is involved in blood clotting, in the transport of nerve impulses and in the muscles. Hypercalcemia or hypocalcemia is manifested by the following symptoms: 

• From the nervous system - tics, twitching of the muscles of the mouth, spasms in the throat, neurotic nature, irritability, anxiety, drowsiness, apathy. Less often - headaches. 
• On the part of the musculoskeletal system - numbness of the fingers, cramps in the calves of the legs, muscular atony, tics, fragility of the bone and dental tissue. 
• Since the cardiovascular system - a violation of the normal heart rhythm (tachycardia, arrhythmia), symptoms of heart block, hypotension or hypertension.
• On the part of the digestive system - nausea to vomiting, constant thirst and dehydration, constipation. 

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Metabolic disorders, the symptoms of which relate to deficiency or excess of magnesium

Magnesium is an important trace element, an intracellular cation, thanks to which the nervous system and the muscular system work. Magnesium also participates in the work of all enzymes, it helps the functioning of the parathyroid glands. Magnesium imbalance is manifested by the following symptoms: 

• From the side of the muscles - convulsions, both night and day, muscular atony, decreased reflexes, lethargy, up to pseudo-paralysis, spasm of the respiratory muscles, myalgia. 
• On the part of the nervous system - drowsiness, lethargy, apathy, decreased cognitive functions, in the case of an excess of magnesium - delusional states, hallucinations.
• On the part of the cardiovascular system - arrhythmia or tachycardia, low blood pressure, characterized by sharp jumps up, bradycardia, signs of heart block, up to a stop. 

[23], [24], [25]

Metabolic disorders whose symptoms indicate an imbalance of sodium

Sodium is responsible for regulating blood pressure, controls acid-base balance, participates in the nervous, endocrine, muscular system, transports glucose into the cells of tissues, participates in the work of the kidneys and transport of amino acids. Violation of the normal level of sodium is manifested by the following symptoms: 

• On the part of the respiratory system - cyanosis (cyanosis of the skin), severe shortness of breath, up to stop breathing. 
• On the part of the gastrointestinal tract - constant nausea, vomiting, cramps, colic in the abdominal abdomen. Great thirst, dry and rough tongue. 
• Since the cardiovascular system - hypotension, hypotonic crises, vascular collapse (thready pulse). 
• The external manifestations of excess sodium - swelling, pastoznost skin, overweight. 
• From the nervous system - headaches, tics, convulsions. Anxiety and excitable condition. 
• On the part of the skin - sweating, reduced skin turgor, partial hyperemia (redness), dry skin. 
• On the part of the urinary system - low urination, in small portions, frequent urge.

In addition to trace elements, metabolic disorders, the symptoms of which are diverse, may indicate a lack or excess of vitamins in the body. We list the main vitamins, which, as a rule, play leading roles in the functioning of organs and systems. An imbalance of vitamins may be manifested by the following symptoms: 

[26], [27]

Vitamin A

• Night "blindness." 
• Dry eyes. 
• Dry skin. 
• Consolidation of the mucous membranes of the eyes, membranes of the urogenital sphere, oral mucosa. 
• Stunted growth in children under one year old.

Vitamins of group B

• Niacin deficiency - fatigue, diarrhea, dementia (dementia), dermatitis. In medicine, this syndrome is called the syndrome of three D. 
• Thiamine deficiency (B1) - irritability, swelling of the legs, pallor of the skin, abdominal pain, constipation, cramps, difficulty breathing, and nervous exhaustion. Acute B1 deficiency can cause heart failure. 
• Riboflavin (vitamin B2) deficiency - cracks in the corners of the mouth, chapped lips, itchy skin, inflamed eyes ("sand" in the eyes), anemia may develop. 
• Lack of vitamin B6 (pyridoxine) - numbness of the extremities, muscular atony, convulsions, poor condition of the nails and hair (loss), dermatitis. 
• Vitamin B12 deficiency (cyanocobalamin) - anemia in malignant form, weight loss, constipation and diarrhea, muscular atony, swollen and chapped tongue, dementia, mental illness.

Metabolic disorders, the symptoms of which are associated with a deficiency of vitamin C

• Scurvy (violation of collagen connections and, as a result, increased bleeding, atony and muscle atrophy, destruction of bone structure). 
• Weakness and fatigue. 
• Irritability, nervousness, depression. 
• Puffiness of periarticular tissues. 
• Increased joints due to salt deposits.
• Decreased immune defense, frequent infectious and inflammatory diseases. 
• Loss of appetite, weight loss. 
• Poor wound healing. 
• The fragility of the capillaries, bruises.

The symptoms of metabolic disorders are multiple, often they appear only in the later stages of the disease. That is why it is so important to follow the rules of reasonable, rational nutrition and regularly conduct course vitamin therapy.

Metabolic disorders symptoms can have a variety of, often similar to the signs of more studied diseases. If an incorrectly diagnosed disease is not supervised by standard treatment regimens, one should carefully examine the state of all levels of metabolism, consult an endocrinologist.

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Metabolic Diet

Disruption of metabolism in adults and metabolic disorders in children suggests, above all, the observance of a certain lifestyle. Adults should pay attention to the medicinal diet, which has been known to physicians for a long time and is called Pevzner's table No. 8. This diet with metabolic disorders was created in the 30s of the last century by the outstanding scientist Pevzner, the founder of gastroenterology and dietetics. In total, Pevzner has 15 diets designed to control various groups of diseases. Food for obesity and overweight is suitable for almost all those who have a broken metabolism. The principle of the diet is not based on the loss of kilograms, but on the restoration of the functions of organs and systems. The main sign that a metabolic disorder has begun to act is a constant feeling of slight hunger. Caloric intake is very sparing in comparison with other "high-speed" diets - 2000 calories daily, weight really normalizes slowly, gradually, but for a long time.

Catering according to Pevzner - table No. 8 includes the following restrictions: 

• Bread from wholemeal flour only, no more than 150 grams per day. 
• Every day, 250 ml of vegetable soup without meat, in a fast broth. Twice a week on set days, for example, Monday through Thursday, soup is allowed on light meat broth with meatballs or a piece of meat. 
• Every day the menu should be vegetables, preferably fresh - at least 200 grams. Excludes potatoes, carrots, beets. 
• Restriction concerns salty, pickled and spicy foods. 
• Bread is replaced by pasta, that is, you need to choose two days a week, when instead of bread pasta is included in the diet - no more than 150 grams per day. 
• Reception of meat products is obligatory (to exclude sausages). Meat is necessary as a source of protein, not less than 150 grams, you also need to eat fish daily - 100-150 grams. 
• Eggs - no more than 1 piece per day - boiled or scrambled eggs 
• Oil only vegetable, butter, margarine should be excluded. 
• Dairy products are chosen with a minimum fat content. 
• Bananas, grapes are excluded. 
• Tea or coffee is better to drink without sugar. 
• Baking, sweet cookies, cakes are completely excluded. 
• Every day you need to drink at least 1, 5 liters of water (liquid).

Nutrition in metabolic disorders implies a strict limitation or complete elimination of fat, animal fats, rice, semolina, fatty meat, sausages, potatoes, legumes, sour cream and mayonnaise, alcoholic beverages.

[29], [30], [31]

How to treat a metabolic disorder?

Metabolic disorders treatment involves a complex and only under the supervision of a physician. Means that can regulate metabolism can be divided into the following categories: 

1. Hormones - drugs based on biologically active substances that contribute to the normalization of metabolism, coordination of all metabolic processes. The appointment of hormonal drugs should be done only by a doctor. 
2. Vitamin complex - low molecular weight, active compounds that are involved in all vital processes - in the fermentation, regulation, the development of the necessary substances, the accumulation of energy, the development of tissue and bone system. Vitamins should be consumed regularly, correctly selecting their combination and dosage, since not only vitamin deficiency can provoke a metabolic disorder, but also their overabundance. 
3. Enzymes - proteoliths (trypsin) fibrinogen (streptokinase, fibrinolysin), depolymerizing substances (DNA, RNA), agents that neutralize the viscous consistency of hyaluronic acid (ranidase, lydaza). 
4. Drugs that regulate hemostasis - antithrombotic agents, erythropoiesis stimulants, drugs that stabilize the level of iron in the blood, hemostatics. 
5. Amino acids, some of which have become an independent drug (glycine, methionine). Amino acids compensate for the lack of these substances in the body, ensuring the restoration of neural conductivity, hypothalamo-pituitary activity, improving the state of energy resources and many other processes. 
6. Biostimulants - improve the condition of the nervous system, eliminate the phenomenon of hypoxia, activate the protective properties of the body. Biogenic drugs accelerate the process of restoring the regulation of metabolic processes, have reparative properties.

In addition to taking medications prescribed by a doctor, those who have a metabolic disorder, has really become a problem, you should think about your diet.

[32], [33]