Metabolic disorder

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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 breakdown and assimilation of food components are disrupted for some reason.

Metabolic disorders can be inherited, in which case they are usually regarded as congenital metabolic disorders. Problems can appear immediately after birth or as the body grows and develops.

Also, metabolic disorders can be acquired over the course of your life. A typical example is a 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. People are especially affected in developed countries, where there are tendencies towards unhealthy diets and a great role for stress. For example, diabetes is a metabolic disorder that affects millions of people around the world.

What is a metabolic disorder?
In the body, various metabolic chains or pathways, enzyme systems can be disrupted. They can affect only carbohydrate metabolism, or only fat metabolism, the metabolism of protein compounds. But often several links of metabolism suffer at once, including water-salt homeostasis and hormonal background, which provokes complex hormonal-metabolic pathologies.

The problem can be congenital when initially certain metabolic pathways were not formed in the genes or were disabled due to breakdown, or it forms throughout life, although the characteristics of metabolism were initially acquired from the parents.

Typical examples of metabolic problems include:

  • Phenylketonuria is a prime example of a hereditary metabolic disorder characterized by an inability to break down one of the building blocks of protein, the amino acid phenylalanine.
  • Type I diabetes, a hereditary disorder 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 that affects 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, as well as HIV / AIDS.

In the past 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 sharply and literally in a few hours bring a patient in a serious condition to the hospital. For example, a 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 patients, and the pace of discovery continues to accelerate.

The causes of metabolic disorders
Metabolic disorders and the symptoms associated with them develop when normal metabolic processes are disturbed. Usually, food is broken down by the body into simpler components (proteins into amino acids, fats to fatty acids, and carbohydrates to simple sugars) in a strictly 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 with which they are associated. 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-smelling urine disease, and homocystinuria;
  • carbohydrate disorders – diabetes insipidus, hereditary fructose intolerance, galactosemia, metabolic disorders of pyruvate, von Gierke’s disease, McArdle’s disease, Pompe’s disease, and Forbes disease;
  • fatty acid oxidation defects – Gaucher disease, Niemann-Pick disease, Fabry disease, and acyl-coenzyme A dehydrogenase deficiency.

Other causes of metabolic disorders
Metabolic disorders can be caused by other factors, such as a combination of hereditary factors and environmental influences. Typical examples of conditions that can cause metabolic disorders to include:

  • alcohol abuse, which can cause liver problems, a drop in blood sugar, or lipid metabolism disorders;
  • diabetes, a chronic condition that affects your body’s ability to use sugar for energy;
  • abuse of diuretics (diuretics);
  • gout, a type of arthritis caused by the 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);
  • renal 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 metabolic disorders
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 lead to mild symptoms that can be controlled with medications and lifestyle changes (activity, eating, walking, etc.), while others can cause serious and life-threatening symptoms such as breathing problems, seizures, and multiple organ failure, shock, or coma.

Some hereditary metabolic disorders may require long-term intake of nutritional supplements, vitamins, medications, and treatment, while metabolic disorders resulting from another disease or condition (for example, carbohydrate and fat metabolism problems with iodine deficiency in the background of an endemic goiter), often pass after treatment of the underlying disease.

Get immediate medical attention (call 112 or 03) for severe symptoms such as:

  • severe difficulty breathing;
  • bluish tinge to lips or nails;
  • changes in the level of consciousness or orientation in space, for example, loss of consciousness or lack of reactions to light, sound, or tactile irritations (tingling of the skin, slaps on the cheeks, etc.).

You should immediately seek medical help from a specialized doctor (therapist, endocrinologist, hepatologist, neurologist, or gastroenterologist) if you are being treated for metabolic disorders, but mild symptoms recur or persist.

Metabolic disorders cause disturbances, failures, or inhibition (less often acceleration) of 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 develop in families and are hereditary include:

  • Many body fluids smell like maple syrup, mouse urine, rotten fruit, or chemicals;
  • Bone abnormalities such as osteoporosis (thinning and weakening of bones) occur;
  • difficulty remembering, thinking, speaking, understanding speech, writing, or reading;
  • an enlarged liver, heart, kidney, 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 severe decrease in vision, problems with the optic nerve;
  • muscle twitching, spasms, or cramps;
  • muscle weakness, even to the point of being unable to walk, stand, or move;
  • paralysis or paresis (partial paralysis).

Symptoms of Acquired Metabolic Disorders
Symptoms of metabolic disorders that can occur during life include:

  • chronic or persistent diarrhea;
  • constant and pronounced fatigue;
  • headache;
  • irritability and mood swings;
  • muscle spasms, twitching of certain 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, foodborne infections, side effects of drugs, exacerbation of chronic diseases). You should seek immediate medical attention if you or a loved one has any of these life-threatening symptoms, including:

  • bluish tinge to lips or nails, blueness around the mouth;
  • a change in mental status or sudden change in behavior, such as confusion, delusions, lethargy, hallucinations, and delusions;
  • respiratory distress or breathing problems such as shortness of breath, shortness of breath, difficulty breathing, wheezing, choking.
  • convulsive attack.

Treatment of metabolic disorders
Treatment of metabolic disorders begins with seeking medical attention from a doctor or hospitalization if the problem occurs suddenly. The approach to the treatment of metabolic disorders depends on the specific disease.

Congenital metabolic disorders (inherited metabolic disorders) are often treated with some expensive medications and dietary adjustments, lifestyle adjustments, periodic monitoring by a doctor, physical therapy, and other supportive care options.

For hereditary metabolic disorders caused by serious illnesses, several treatment options are available. Examples include:

  • bone marrow transplant;
  • enzyme replacement therapy in selected patients;
  • hormone replacement therapy in people with endocrine insufficiency (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).


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