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Metabolism is the breakdown of food into simpler components: proteins are broken down into amino acids, carbohydrates into simple sugars (up to glucose and fructose), and fats into simple lipid molecules. Metabolic disorders occur when these normal processes of splitting and assimilation of food components are violated for some reason.
Metabolic disorders can be inherited, in which case they are usually considered as congenital metabolic disorders. Problems can appear immediately after birth or as the body grows and develops.
Also, metabolic (or metabolic) disorders can be acquired during your lifetime. A typical example is the metabolic syndrome, with the accumulation of blood lipids, abdominal obesity and disorders of the hormone insulin. There are many metabolic disorders, and they are common in all countries of the world. Particularly affected are people in developed countries, where there are tendencies towards unhealthy eating and the role of stress is great. For example, diabetes is a metabolic disorder that affects millions of people around the world.
What is metabolic disorder
In the body, various metabolic chains or pathways, enzyme systems can be disrupted. They can affect only carbohydrate metabolism, or only fat, protein metabolism. But often several links of metabolism suffer at once, including water-salt homeostasis and hormonal levels, which provokes complex hormonal-metabolic pathologies.
The problem may have an innate form, when certain metabolic pathways were not initially formed in the genes or turned off due to breakdown, or it is formed throughout life, although metabolic features were initially acquired from the parents.
Here are typical examples of metabolic problems:
- phenylketonuria is a prime example of a hereditary metabolic disorder characterized by an inability to break down one of the building blocks of a protein, the amino acid phenylalanine;
- type XNUMX diabetes, a hereditary disease in which the pancreas does not produce enough insulin to maintain a balanced blood sugar level, is a disorder of carbohydrate metabolism;
- Gaucher disease is also an example of a metabolic disorder affecting fat metabolism, which is characterized by the absence of the enzyme glucocerebrosidase.
Metabolic disorders can also be complications of serious diseases or pathological conditions, including liver or respiratory failure, various types of cancer, chronic obstructive pulmonary disease (COPD) which includes emphysema and chronic bronchitis, and HIV/AIDS.
In the last 30 years, significant advances have been made in the recognition and treatment of metabolic disorders. Sometimes there are very complex metabolic pathways that lead to metabolic disorders, and their symptoms appear abruptly and in just a few hours lead the patient in serious condition to the hospital. For example, coma with a sharp change in the concentration of glucose in the blood (hypoglycemia) or metabolic disorders due to the intake of certain drugs, toxic substances or food poisons.
In other cases, the responsibility lies solely with one tiny error in a person’s DNA (sometimes literally in one gene). These discoveries have allowed scientists to develop unusual treatments for the sick, and the pace of discovery continues to accelerate.
Causes of metabolic disorders
Metabolic disorders and the symptoms associated with them develop when normal metabolic processes are disturbed. Normally, food is broken down by the body into its simpler components (proteins into amino acids, fats into fatty acids, and carbohydrates into simple sugars) in a highly regulated manner. Metabolic disorders are determined by the violation of any of the stages of this complex process.
Hereditary causes of metabolic disorders
There are many examples of hereditary metabolic disorders that can be classified according to the type of substance they are associated with. Enzymes that regulate metabolic pathways, hormones that transmit information from the brain or tissues, receptors that perceive information and transmit it to cells can suffer. Hereditary causes of metabolic disorders include:
- amino acid disorders – Tay-Sachs disease, phenylketonuria, tyrosinemia, maple syrup urine disease and homocystinuria;
- carbohydrate disorders – diabetes insipidus, hereditary fructose intolerance, galactosemia, pyruvate metabolism disorders, von Gierke’s disease, McArdle’s disease, Pompe’s disease and Forbes’ disease;
- defects in fatty acid oxidation – Gaucher disease, Niemann-Pick disease, Fabry disease and deficiency of acyl-coenzyme A dehydrogenase.
Other causes of metabolic disorders
Metabolic disorders can be caused by other factors such as a combination of hereditary and environmental factors. Typical examples of conditions that can cause metabolic disorders include:
- alcohol abuse, which can cause liver problems, a drop in blood sugar, or impaired lipid metabolism;
- diabetes, a chronic disease that affects your body’s ability to use sugar for energy;
- abuse of diuretics (diuretics);
- gout, a type of arthritis caused by a buildup of uric acid in the joints
- ingestion of poison or toxins, including excessive amounts of aspirin, bicarbonate, alkali, ethylene glycol, or methanol (methyl alcohol);
- kidney failure;
- pneumonia, respiratory failure or collapse of the lung, which causes hypoxia and disruption of oxygen-dependent metabolic pathways;
- sepsis is a life-threatening bacterial infection of the blood.
Symptoms of a metabolic disorder
Symptoms of metabolic disorders vary from person to person depending on gender, age, region of residence and external factors, as well as depending on the type of disease.
Some metabolic disorders result in mild symptoms that can be controlled with medication and lifestyle changes (activity, diet, walking, etc.), while others can cause severe and life-threatening symptoms such as breathing problems , convulsions and multiple organ failure, shock or coma.
Some hereditary metabolic disorders may require long-term nutritional supplements, vitamins, drugs, and medication, while metabolic disorders resulting from another disease or condition (eg, problems with carbohydrate and fat metabolism in iodine deficiency due to endemic goiter) often disappear after treatment of the underlying disease.
Seek immediate medical attention (call 112 or 03) in case of severe symptoms such as:
- severely difficult breathing;
- bluish tint of lips or nails;
- a change in the level of consciousness or orientation in space, for example, loss of consciousness or lack of reactions to light, sound or tactile stimuli (skin tingling, slaps on the cheeks, etc.).
You should immediately seek medical attention from a specialized doctor (internist, endocrinologist, hepatologist, neurologist or gastroenterologist) if you are being treated for metabolic disorders, but mild symptoms recur or persist.
Metabolic disorders cause disruption, disruption, or inhibition (rarely acceleration) of the normal chemical processes in the body and lead to various symptoms, depending on the specific disease. Symptoms can vary in intensity from person to person.
Symptoms of hereditary metabolic disorders
Symptoms of metabolic disorders that run in families and have hereditary roots include:
- many bodily fluids smell like maple syrup, mouse urine, rotten fruit, or chemicals;
- bone abnormalities occur, such as osteoporosis (thinning and weakening of the bones);
- difficulty with memory, thinking, speaking, understanding speech, writing or reading;
- an enlarged liver, heart, kidneys, or spleen;
- inability to fully develop in infants and children;
- frequent infections, including atypical ones – fungal, viral, caused by opportunistic flora;
- hypoglycemia (low blood sugar);
- loss of vision or its strong decrease, problems with the optic nerve;
- muscle twitching, spasms, or cramps;
- muscle weakness, up to the inability to walk, stand or move;
- paralysis or paresis (partial paralysis).
Symptoms of acquired metabolic disorders
Symptoms of metabolic disorders that may occur during life include:
- chronic or persistent diarrhea;
- constant and pronounced fatigue;
- headache;
- irritability and mood swings;
- muscle spasms, twitching of individual muscle groups on the face or body;
- nausea with or without vomiting;
- rapid breathing (tachypnea) or shortness of breath.
Serious symptoms that may indicate a life-threatening condition
In some cases, metabolic disorders can be life-threatening, and if there is no experienced doctor nearby, they can be mistaken for other problems (poisoning, food infections, side effects of drugs, exacerbation of chronic diseases). Seek immediate medical attention if you or a loved one has any of these life-threatening symptoms, including:
- a bluish tint to the lips or nails, cyanosis around the mouth;
- change in mental status or sudden change in behavior, such as confusion, delirium, lethargy, hallucinations, and delirium;
- respiratory disorders or breathing problems such as shortness of breath, shortness of breath, shortness of breath, wheezing, choking.
- convulsive attack.
Treatment of metabolic disorders
Treatment of metabolic disorders begins with seeking medical help from a doctor or hospitalization if the problem occurs suddenly. The approach to treating metabolic disorders depends on the specific disease.
Congenital metabolic disorders (inherited metabolic disorders) are often treated with some expensive medications and dietary, lifestyle, periodic medical check-ups, physical therapy, and other supportive care options.
For hereditary metabolic disorders caused by serious diseases, several treatment options are available. Examples include:
- bone marrow transplant;
- enzyme replacement therapy in selected patients;
- hormone replacement therapy in people with insufficiency of endocrine organs (thyroid gland, pituitary gland, adrenal glands);
- medicines to reduce symptoms such as pain or low blood sugar;
- mineral supplements (calcium, potassium, magnesium, phosphorus or chlorine, sodium);
- nutritional advice;
- physiotherapy;
- surgery to relieve pain or symptoms;
- vitamin supplements.
Treatment of an acquired metabolic disorder will include normalizing the metabolic balance by eliminating the cause of the disorder and taking medications, administering certain solutions and metabolites (plasma, proteins, vitamins, enzymes, hormones).
Popular questions and answers
To popular questions about the metabolism in the body, we answered the endocrinologist Zukhra Pavlova.
The main components of our metabolism are fats, carbohydrates, proteins, macro- and microelements. Depending on what exactly the body lacks, certain diseases can occur. And, of course, all this is interconnected. When we talk about such a disease as diabetes, it is metabolic. We even refer to it as “disorder of carbohydrate metabolism”. But in this process, all forms of metabolism will suffer: both protein and fat.
Complications – they are usually metabolic, systemic, that is, the whole body suffers, all tissues and organs work worse (heart, liver, could, kidneys and the endocrine glands themselves).
And you need to come to the dispensary! In order not to develop global metabolic problems. When patients once a year undergo a medical examination, even a minimal one: an examination by a therapist and the delivery of biochemical tests, the simplest set of them, this can already help the doctor understand whether everything is safe in the body.
But if you already have health problems, you need to contact immediately as soon as the first complaints appear. Because the sooner treatment begins, the better.
The basis for the treatment of metabolic disorders, if they are not associated with genetic disorders, is the correction of lifestyle, circadian rhythms and sufficient physical activity. Especially, in the fight against the global epidemic of the XXI century – obesity, and this is a metabolic disease associated with metabolic disorders.