Causes, signs and treatment of metabolic disorders

Metabolic disorders manifest themselves at almost all levels of the body's biological systems - cellular, molecular, and others. Metabolic disorders at the cellular level are considered the most serious, as they significantly change self-regulation mechanisms and have a hereditary cause.

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

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

• The irreplaceable "building material" is proteins, which became famous thanks to the historical phrases of Engels about life as a form of 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 water-salt balance and fermentation processes.
• Carbohydrates are considered a source of energy resources for the body, among the most important are glycogen and glucose. Carbohydrates also participate in the synthesis of amino acids and lipids.
• Fats accumulate energy reserves and release energy only in combination with carbohydrates. Fats are also needed to produce hormones, absorb some vitamins, they participate in the construction of the cell membrane, and ensure the preservation of nutrients.

Metabolic disorder is a change in one of the stages of metabolism – 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) – synthesis, which is characterized by energy consumption. The process of metabolism occurs throughout life according to the following stages:

• Nutrients enter the human body.
• Nutrients are absorbed from the digestive system, fermented and broken down, and released into the blood and lymphatic system.
• Tissue stage – transport, redistribution, release of energy and assimilation of substances.
• Removal of metabolic waste products that the body has not absorbed. Excretion occurs through the lungs, sweat, urine and feces.

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Causes of metabolic disorders

The causes of metabolic disorders are usually related to the hereditary factor, although they have not yet been fully studied. The main role in regulating intracellular metabolism is played by genetically transmitted information. If genes begin to mutate, especially those that code for enzyme synthesis, metabolic defects develop. Mutations of transport and structural proteins also affect gene defects, but to a lesser extent.

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

One of the reasons may be an incorrect diet of a person, as well as failure to comply with the norms of a healthy lifestyle. Both overeating, starvation, and fanatical devotion to newfangled diets, untested by time and nutritionists, can provoke a failure in metabolism.

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Metabolic disorders in children

Metabolic disorders in children and metabolic disorders in adults sometimes differ dramatically. The child's body develops intensively, so it requires much more energy resources and plastic elements that are produced thanks to the food entering the body. The metabolic rate is especially high in children under one year of age, when the child's basic systemic functions are formed. Then the child requires significant energy resources for the processes of assimilation and synthesis, which contribute to development and growth. Since the central nervous system, neurohumoral mechanisms and endocrine glands are not stabilized, the regulation of metabolic processes in the child is imperfect. Therefore, metabolic disorders in children are quite common, especially in our time, when there is no culture of rational nutrition and adherence to physical activity standards. The consequences of metabolic disorders in a child can be the following diseases:

1. Anemia, which develops against the background of a deficiency of protein components and iron. That is why, while the child's body is growing, it is very important to monitor the child's nutrition and food intake regime. Even if the 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 that prevent the absorption of calcium. Both calcium and phosphorus play a vital 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 phosphorus-calcium metabolism and excess calcium, against the background of previously diagnosed rickets. Spasmophilia is manifested by convulsive syndrome, spasms.
4. Amyloidosis is a pathological disease that is provoked 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 heart, the cause is the deposition of structurally altered proteins in muscle tissue (amyloids).
5. Hyperglycemia, which is a consequence of latent diabetes mellitus.
6. Hypoglycemia (insulin shock) is a low level of glucose (sugar) in the blood due to stress or because the mother has diabetes.

A metabolic disorder at any stage, both in adults and children, provokes pathological changes in the functioning of the body's systems and is a serious threat to health.

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The first signs of metabolic disorders

Metabolic disorders demonstrate various symptoms, among which the most characteristic are excess weight, obesity. Further on 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, diseases that are inevitably accompanied by signs of metabolic disorders are described in detail.

• Gout is a disorder of uric acid metabolism regulation, in which salts accumulate in the kidneys and cartilage tissue, provoking an inflammatory process.
• Hypercholesterolemia - disorders of dissimilation, catabolism of lipoproteins, when the level of cholesterol in the blood increases significantly, and cholesterol also accumulates in tissues. Such imbalance is one of the reasons for the rapidly developing cardiovascular diseases all over the world.
• Phenylketonuria is a metabolic disorder of hereditary etiology, when the body lacks a specific enzyme - phenylalanine hydroxylase, which leads to mental disorders (developmental delay).
• Gierke's disease is an excess of glycogen in organs and tissues, which leads to hepatomegaly (enlarged liver), developmental delays - growth retardation, hypoglycemia.
• Alkaptonuria is a metabolic disorder caused by a gene mutation, when the gene responsible for oxidase synthesis does not perform its function. This is a typical male disease affecting cartilage tissue (spine, joints).
• Albinism is the absence of the necessary pigment – melanin. The disease is caused by the inability to synthesize tyrosine and phenylalanine and has a hereditary etiology.

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

Symptoms of metabolic disorders

The symptoms of metabolic disorders may vary. They depend on what level of metabolism is changing - molecular, cellular, metabolism in tissues and organs or the holistic level. Any violation of the chemical metabolic process can provoke a disease. The causes of metabolic disorders are dysfunction of the adrenal glands, pituitary gland, thyroid gland, heredity, and metabolic disorders can also be caused by improper nutrition, most often, starvation. Changes in metabolic processes appear gradually, so the primary symptoms are often not visible. The most pronounced signs concern the violation of the holistic level, which includes the main types of assimilation and dissimilation of important components:

1. Synthesis of proteins.
2. Dissimilation (breakdown) of proteins.
3. Synthesis of fats.
4. Dissimilation of fats.
5. Carbohydrate synthesis.
6. Dissimilation of carbohydrates.

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How to recognize the first signs of metabolic disorders?

Metabolic disorder main symptoms:

• A noticeable change in body weight - either downwards or upwards, while maintaining the usual diet.
• Lack of appetite or, on the contrary, increased appetite.
• The appearance of hyper or hypopigmentation.
• Dental problems, mainly the destruction of tooth enamel.
• Disruption of the digestive system - diarrhea alternates with constipation.
• Changes in the structure of nails and hair – dryness, flaking, brittleness (hair – early graying, nails – white spots).
• Dermatological problems – acne, skin rashes, less commonly – furunculosis.
• Paleness of the skin, puffiness of the face and swelling of the extremities (pastosity).

Diseases caused by metabolic disorders can be hereditary or acquired.

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Metabolic disorders, symptoms of hereditary diseases:

Hypercholesterolemia is a disorder of lipoprotein breakdown, which results in atherosclerosis. Signs and diseases:

• numbness of the limbs (they often feel cold);
• cyanosis (blueness) of the skin;
• cardiac pathologies;
• impaired concentration and memory;
• hypertension;
• nephropathologies, diabetes.

Gierke's disease is a congenital pathology associated with a violation of the enzymatic function of the liver, which is characterized by the following symptoms:

• hepatomegaly (enlarged liver);
• subfebrile temperature;
• dyspnea;
• growth retardation;
• deviation from the norms of physical development;
• hypoglycemia.

Gout is a change in uric acid metabolism, the deposition of salts in cartilage tissues and 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;
• elevated body temperature;
• formation of tophi (subcutaneous nodes) in the elbow joints, in the auricles and in the area of the Achilles tendons.

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

• lethargy, apathy, unusual for infants;
• lethargy suddenly gives way to irritability;
• retardation in physical and mental development (mild degree of oligophrenia or idiocy);
• delay in anatomical development – small skull size, late eruption of teeth, underdevelopment of the musculoskeletal system;
• typical symptoms are a swaying gait, small steps, and when sitting – a “tailor’s pose” due to hypertonicity;
• quite common cases of albinism (lack of melanin);
• acrocyanosis (blueness) of the extremities;
• hypotension;
• dermatitis.

Alkaptonuria is a genetic disorder in which the activity of homogentisinase (an enzyme) is reduced and the breakdown of amino acids – tyrosine and phenylalanine – is disrupted. Symptoms:

• dark urine color since birth;
• pronounced skin hyperpigmentation;
• general weakness;
• arthritis and ostitis;
• osteoporosis;
• hoarseness of voice.

Metabolic disorder, the symptoms of which can be attributed to diseases caused by external factors and dysfunctions of the pituitary gland, adrenal glands, thyroid gland. As a rule, 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, participates in the transmission of nerve signals (impulses), controls the acid-base balance, and activates fermentation processes. Violation of the normal potassium level provokes the following symptoms:

• From the nervous system – irritability, decreased concentration and memory, decreased all reflexes.
• From the cardiovascular system – hypotension, dizziness, arrhythmia (low potassium levels) or tachycardia (excess potassium).
• From the digestive tract – loss of appetite, nausea, even vomiting, upset stomach, flatulence, inhibition of intestinal peristalsis, abdominal cramps.
• From the muscular system – cramps (calf cramps), decreased physical activity, weakness, even mild paralysis.
• From the urinary system – impaired urination (frequent urge, profuse or decreased urination).
• In terms of acid-base balance, there are clear manifestations of acidosis (increased acidity).

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Calcium imbalance

Changes in the calcium norm in the body affect cellular functions, the formation of bone tissue, including dental tissue, calcium is involved in blood clotting processes, in the transport of nerve impulses and in muscle function. Hypercalcemia or hypocalcemia is manifested by the following symptoms:

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

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A metabolic disorder whose symptoms relate to a deficiency or excess of magnesium

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

• On the part of the muscles – cramps, both night and day, muscle atony, decreased reflexes, lethargy, even pseudo-paralysis, spasm of the respiratory muscles, myalgia.
• From the nervous system – drowsiness, lethargy, apathy, decreased cognitive functions, in case of excess magnesium – delusional states, hallucinations.
• From the cardiovascular system – arrhythmia or tachycardia, low blood pressure characterized by sharp upward surges, bradycardia, signs of heart block, up to and including cardiac arrest.

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Metabolic disorder whose symptoms indicate a sodium imbalance

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

• From the respiratory system - cyanosis (blueness of the skin), severe shortness of breath, up to respiratory arrest.
• From the gastrointestinal tract - constant nausea, vomiting, spasms, colic in the abdominal area. Strong thirst, dry and rough tongue.
• From the cardiovascular system - hypotension, hypotonic crises, vascular collapse (thread-like pulse).
• External manifestations of excess sodium include swelling, puffiness of the skin, and excess weight.
• From the nervous system - headaches, tics, convulsions. Anxiety and excitability.
• From the skin side – sweating, decreased skin turgor, partial hyperemia (redness), dry areas of skin.
• From the urinary system - decreased urination, in small portions, frequent urges.

In addition to microelements, metabolic disorders, the symptoms of which are varied, may indicate a deficiency or excess of vitamins in the body. Let us list the main vitamins, which, as a rule, play leading roles in the functioning of organs and systems. Vitamin imbalance may manifest itself in the following symptoms:

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Vitamin A

• Night "blindness".
• Dry eyes.
• Dryness of the skin.
• Thickening of the mucous membranes of the eyes, membranes of the genitourinary system, and oral mucosa.
• Growth retardation in children under one year of age.

B vitamins

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

A metabolic disorder whose symptoms are associated with vitamin C deficiency

• Scurvy (disruption of collagen bonds and, as a result, increased bleeding, atony and atrophy of muscles, destruction of bone structure).
• Weakness and fatigue.
• Irritability, nervousness, depression.
• Swelling of periarticular tissues.
• Enlargement of joints due to salt deposits.
• Decreased immune protection, frequent infectious and inflammatory diseases.
• Loss of appetite, weight loss.
• Poor wound healing.
• Capillary fragility, bruising.

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

Metabolic disorders can have a variety of symptoms, often similar to the signs of more studied diseases. If an incorrectly diagnosed disease is not treated with standard treatment regimens, you should carefully study the state of all metabolic levels and consult an endocrinologist.

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Diet for metabolic disorders

Metabolic disorders in adults and metabolic disorders in children require, first of all, a certain lifestyle. Adults should pay attention to the long-known medical diet, called table No. 8 according to Pevzner. This diet for 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 manage various groups of diseases. Nutrition for obesity and excess weight is quite suitable for almost all those who have metabolic disorders. The principle of the diet is based not on losing kilograms, but on restoring the functions of organs and systems. The main sign that the diet for metabolic disorders has begun to work is a constant feeling of slight hunger. The caloric content of the diet is very gentle in comparison with other "speed" diets - 2000 calories daily, weight really normalizes slowly, gradually, but for a long time.

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

• Bread only from wholemeal flour, no more than 150 grams per day.
• Every day 250 ml of vegetable soup without meat, on lean broth. Twice a week on set days, for example Monday - Thursday, soup on light meat broth with meatballs or a piece of meat is allowed.
• Vegetables should be included in the menu every day, preferably fresh ones – at least 200 grams. Potatoes, carrots, and beets are excluded.
• The restriction applies to salty, pickled and spicy foods.
• Bread is replaced with pasta, that is, you need to choose two days a week when pasta is included in the diet instead of bread - no more than 150 grams per day.
• It is necessary to eat meat products (excluding sausages). Meat is needed as a source of protein, at least 150 grams, and you also need to eat fish daily - 100-150 grams.
• Eggs – no more than 1 piece per day – boiled or omelette
• Only vegetable oil, butter and margarine should be excluded.
• Dairy products are chosen with minimal fat content.
• Bananas and grapes are excluded.
• It is better to drink tea or coffee without sugar.
• Pastries, sweet cookies, and cakes are completely excluded.
• You need to drink at least 1.5 liters of water (liquid) every day.

Nutrition for metabolic disorders involves strict limitation or complete exclusion of lard, animal fats, rice, semolina, fatty meats, sausages, potatoes, legumes, sour cream and mayonnaise, and alcoholic beverages.

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How to treat metabolic disorders?

Metabolic disorders require complex treatment and only under the supervision of a doctor. The means that can regulate metabolism can be divided into the following categories:

1. Hormones are preparations based on biologically active substances that help normalize metabolism and coordinate all metabolic processes. Hormonal preparations should only be prescribed by a doctor.
2. Vitamin complex – low-molecular, active compounds that participate in all vital processes – fermentation, regulation, production of essential substances, energy accumulation, tissue and bone system development. Vitamins should be consumed regularly, choosing their combination and dosage wisely, since not only vitamin deficiency can provoke metabolic disorders, but also their excess.
3. Enzymes – proteolytics (trypsin), fibrinogens (streptokinase, fibrinolysin), depolymerizing substances (DNA, RNA), agents that neutralize the viscous consistency of hyaluronic acid (ranidase, lidase).
4. Drugs that regulate hemostasis – antithrombotic agents, erythropoiesis stimulants, drugs that stabilize iron levels in the blood, hemostatics.
5. Amino acids, some of which have become independent medicines (glycine, methionine). Amino acids compensate for the lack of these substances in the body, ensuring the restoration of neural conductivity, hypothalamic-pituitary activity, improving the state of energy resources and many other processes.
6. Biostimulants – improve the state of the nervous system, eliminate hypoxia, activate the body's defenses. 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 whose metabolic disorder has truly become a problem should think about their diet.

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