The emergence of the problem

Metabolic disorders may have different causes and manifested in different ways. The best-known metabolic disorder - is obesity, which in turn can cause a variety of diseases. But there are other, less well-known metabolic disorders, which have both acquired and hereditary.

What is metabolism

Metabolism and energy or metabolism - a set of processes of transformation of matter and energy that occur in living organisms and the exchange of matter and energy between the organism and the environment. This is a critical feature of living matter, which distinguishes living from the nonliving. In the process of metabolism in the body material received by the biochemical changes are transformed into own substances of the human body tissues and products derived from it. When these chemical reactions is released and absorbed energy. Metabolism is the process of updating the targeted organs and tissues and maintain a constant internal environment. It involves many enzyme systems (enzymes - substances that are many times the speed all biochemical processes), it provides a sophisticated operation of neurohormonal regulation at different levels.

Metabolic disorders can have different causes:

• hereditary, genetically determined metabolic disorder (phenylketonuria, albinism, Gierke disease, etc.);
• disorders of the endocrine system: inhibition of thyroid, pituitary, adrenal gland, gonads slows down metabolism; increased function of these glands - the activation of metabolic processes;
• disorders of the central nervous system, such as disorders of the hypothalamus of the brain is disrupted operation of all endocrine glands;
• lack of vitamins, which are part of enzymes;
• lack of micro-and macro, which are active participants in all biochemical processes;
• eating disorders in the form of fasting, constant extreme diets, indiscriminate supply dry rations; lack of essential nutrients: protein (tissue not updated), carbohydrates (no energy for metabolism), fat (also move metabolism);
• eating disorders in the form of overeating - the body can not cope with a large amount of food and metabolism Improves metabolism and losing weight without dieting   slowing down;
• Neuropsychiatric high loads and stress;
• lack of sleep;
• sedentary lifestyle.

All of these factors lead to the fact that the velocity is disturbed metabolic processes in the organism accumulates large amounts of metabolic products that poison the body. Some biochemical processes can be broken so that the end of their products will be significantly different from the normal metabolic products.

How is metabolic disorders

Acquired metabolic disorders are most often associated with disorders of the nervous and endocrine functions, as many metabolic processes are controlled by hormones. Metabolic disorders causing diseases such as obesity, diabetes Diabetes - threatening and incurable disease Hypothyroidism, hyperthyroidism Hyperthyroidism: increased secretion of thyroid hormone   and other.

The cause of acquired metabolic disorders are most often in the wrong nutrition in which a person does not receive any nutrients or receive them in abundance. As a result, there is some kind of a metabolic disorder, which causes a whole bunch of diseases. For example, with a deficiency of essential fats (fats is of vegetable origin and the fat in the fish) are slowed down metabolic processes, and an excess refractory animal fats in the blood vessels formed atherosclerotic plaque, which then cause serious diseases of the cardiovascular system. Refractory fats also cause weight gain, that is obesity, which further aggravates the course of cardiovascular disease and is a predisposing factor for the development of another metabolic diseases - diabetes.

Metabolism can be reduced with a decrease in thyroid function The thyroid gland - is responsible for your hormones That leads to obesity and dementia. Increased thyroid function also leads to disruption of metabolism - its acceleration, resulting in suffering the work of all organs and systems.

Hereditary metabolic diseases

There are a number of congenital metabolic diseases, which are often passed on from generation to generation. An example of such a disease may be phenylketonuria.

Phenylketonuria - a hereditary disease that manifests itself mental retardation due to metabolic disorders. The reason for this metabolic disorder is the lack of phenylalanine hydroxylase enzyme in the body that you want to convert the amino acid phenylalanine vital for the human amino acid tyrosine. As a result, phenylalanine accumulates in the body and brain tissue damage. These metabolic disorders can adjust the power of birth (special amino acid mixture without phenylalanine). If this does not happen and a child gets regular meals, brain damage becomes irreversible.

Metabolism - is very complex and still not fully learned the process.

Types of inherited metabolic disorders

To date, there are hundreds of genetic metabolic disorders Metabolism: The basis of life of all living things And scientists suggest that will open a new disease of this type. Briefly tell only, and some - the most common and important metabolic disorders.

Lysosomal storage diseases. Lysosomes - a space inside the cells, where metabolic waste cleaved. Deficiency of various enzymes within the lysosomes could result in the accumulation of toxic substances, causing the following metabolic abnormalities:

• Hurler's syndrome (abnormal bone structure and developmental delay);
• Niemann - Pick (a sick child, an increase of the liver, nerve damage, feeding difficulties);
• Tay-Sachs disease (progressive weakness in children around the age of one month, severe nerve damage, such patients usually survive only up to 4-5 years);
• Gaucher disease (bone pain, enlargement of the liver, low platelet count, and often symptoms are mild, may be present in children and adults);
• Fabry disease (pain in the limbs in children, heart and kidney disease, stroke - in adults, is a violation is found only in men);
• Krabbe's disease (progressive nerve damage, growth retardation in children, the disease sometimes occurs in adults).

Galactosemia - a disorder in which it is impossible to normal cleavage of one of the sugars - galactose. Newborn symptoms such as jaundice, vomiting and enlarged liver after feeding breast milk or regular formula.

Maple syrup urine disease. This disease is also called the disease of urine odor of maple syrup. Enzyme deficiency BCKD-kinase leads to an accumulation of amino acids in the body. The result is a nerve damage, there is a characteristic symptom - the smell of urine with maple syrup.

Phenylketonuria. Due to the deficiency of the enzyme levels in the blood fenilalalina it becomes dangerously high. If the disease is not treated on time, it could be the result of mental retardation Mental retardation - if the mind is underdeveloped .

Mitochondrial diseases. Malfunction causes damage to the mitochondria of muscle cells.

Friedreich's ataxia. Problems associated with the protein frataxin cause damage to the nervous tissue and often heart disease. On the first or second decade of life (sometimes - later) in patients with this disorder have problems with walking and other symptoms.

Peroxisome disorder. Peroxisomes - it looks like a small cavity within the lysosomes of cells filled with enzymes. Malfunctions of the enzymes in peroxisomes can lead to the accumulation of toxic products of metabolism. By peroxisome violations include:

• Zellweger syndrome (abnormal facial features, enlarged liver, nerve tissue damage in infants);
• Adrenoleukodystrophy (symptoms of nerve damage can occur in children or in people older than 20 years).

Metabolic disorders metals. The metal level in the blood is controlled by special proteins. In congenital metabolic disorders metals malfunction of these proteins leads to the accumulation of metals in the body. Violation of this type are:

• Wilson's disease - Konovalov (accumulation of copper in the liver, brain and other organs);
• Hemochromatosis (intestines absorb excessive amounts of iron, which accumulates in the liver, pancreas Diabetes and pancreas - the things you need to know , Joints and heart, causing serious damage to the organs).

The organic acidemia. For diseases of this type include, for example, methylmalonic acidemia propionic acidemia and.

Diagnostics

Some metabolic disorders are detected during routine newborn screening. Thus, in many countries, children are checked for phenylketonuria and galactosemia. However, never conducted a survey to identify all known congenital metabolic disorders, and many of them are diagnosed only after the first symptoms. If signs of metabolic disorders have appeared, there are special blood tests or DNA that can diagnose the majority of diseases of this type. Contacting a specialized medical center (as a rule, such centers operate at major universities or research institutions) increases the likelihood of rapid correct diagnosis.

Treatment

Opportunities medicine for the treatment of patients in hereditary metabolic disorders are limited. Genetic defects underlying this disease is not amenable to correction by modern technology. Therefore, treatment is not focused on the main reason, and on the consequences - that is, specific metabolic problems caused by defective genes.

The general principles on which the treatment of congenital metabolic disorders:

• Decrease intake or eliminate products or medications that can not normally be processed in the body.
• Replace enzymes or other chemicals that are not produced in sufficient amounts, or are not active, that it is possible to normalize metabolism Improves metabolism and losing weight without dieting .
• Remove toxic products of metabolism that accumulate in the body due to metabolic disorders.

Among the methods of treatment of metabolic disorders may include:

• Special diets, which are excluded from products that can not be processed in the body of the patient;
• Acceptance of different drugs that stimulate metabolism;
• Cleansing the blood from potentially dangerous toxins with the help of special tools.

As these diseases are rare, in general hospitals is not always possible to find experts who know how to work with these patients. If possible, the patient should be treated at medical centers that specialize in genetic metabolic disorders.

Galina Romanenko