Metabolic disorders; From cause to treatment

Our body needs the energy to do different things. This energy is provided by the metabolism (fuel) processes of materials. Metabolic disorders affect other aspects of the power, so some people may produce too much or too little substance likely to cause disease.


What are metabolic disorders?

Metabolism is a variety of chemical processes in the body to maintain everyday life and function. These chemical processes cause growth, reproduction, damage repair, and response to the environment. Metabolism is the result of a balance between two methods:

Catabolism: The production of energy from the breakdown of large molecules into smaller molecules, such as the breakdown of carbohydrate molecules into glucose.

Anabolism: Spending energy to build new cells, maintain body tissue, and store energy.


The following are examples of metabolites in the body:

Decomposition of carbohydrates, proteins, and fats in foods for energy release;

Conversion of excess nitrogen into fecal wastes in urine.

Breaking or converting chemicals into other substances and transferring them to the cell.

Metabolic diseases occur when abnormal chemical reactions disrupt the body’s fuel system, such as the breakdown of large molecules to produce energy, the dysfunction of cells to have energy, or problems regulating power.

For example, insulin helps cells absorb glucose and produce energy, stores glucose in muscle and liver tissue, and diabetes interferes with how the body uses or regulates insulin. If insulin does not work correctly in diabetes, blood sugar can rise and cause various problems.


Metabolic disorders in children

Pediatric metabolic disorders occur when a child’s body cannot correctly process nutrients such as fat, protein, and sugar. Metabolic disorders in young children are usually congenital and in older children are generally due to obesity which can lead to type 2 diabetes and heart disease.

What causes metabolic disorders?

Metabolism is a complex process that involves many biochemicals, tissues, and organs. So there are many opportunities for metabolic errors and disorders, for example:

Genetic factors: Genes can affect metabolism in a variety of ways. There are hundreds of genetic metabolic disorders whose symptoms, diagnosis, and treatment vary. An enzyme is either not produced or does not function appropriately in hereditary metabolic disorders. Depending on the type of enzyme, it can lead to the accumulation of toxic chemicals or the absence of an essential substance.

Organ dysfunction: Metabolism may be impaired. For example, if the pancreas does not produce enough insulin to regulate blood sugar, it can lead to diabetes.

Mitochondrial dysfunction: Mitochondria are small parts of the cell that produce energy primarily. Mitochondrial mutations, DNA mutations in cells, or environmental stimuli can affect mitochondrial function or energy production.


Common inherited metabolic disorders.

There are more than 500 metabolic disorders, some of which are rare genetic disorders. On the other hand, we can mention the following typical cases:


  1. Diabetes

Diabetes is a disease that prevents the proper regulation of blood sugar by insulin and is divided into three types:

Type 1 diabetes is an autoimmune disorder in which the immune system mistakenly attacks pancreatic cells and restricts insulin production. People with this condition need daily insulin injections to regulate blood sugar.

Type 2 diabetes: The body cannot produce enough insulin in this disease. This disease can occur at any age, and various factors such as improper diet can play a role.

Gestational diabetes: This condition usually develops during pregnancy and resolves after childbirth, but it can increase the risk of developing type 2 diabetes.


  1. Gaucher disease

It is a rare genetic disorder in which a genetic mutation limits the production of the enzyme glucose side, which is involved in the breakdown of fat and causes fat to accumulate in the body. This fat usually gets in the spleen and liver and causes various problems as these organs enlarge. Most people have type 1 disease and have symptoms such as fatigue and bruising.


  1. Hemochromatosis

It is a disease that affects iron absorption in the body and results in mutations in the HFE gene, dietary excess iron, or blood transfusions. This disease causes iron accumulation and has the following symptoms:


  • stomach ache;
  • Muscular pain;
  • Darkening of the skin;
  • Sexual problems;
  • Fatigue or weakness.


4. Mitochondrial disorders

They are a group of diseases that prevent the mitochondria from producing enough energy for the cell. These diseases are usually the result of genetic mutations inherited from the family.

All cells have mitochondria and need energy, so that these disorders can affect any part of the body. For example, they can affect muscle growth and function or cause diabetes.

Common symptoms of mitochondrial disorders include:


stomach ache;

Decreased appetite;

Muscle weakness;

Skin discoloration;

Nausea or vomiting;

Unexpected weight gain or loss;

Developmental problems in children and infants.


5. Lysosomal storage disorder

A lysosome is a space inside a cell that breaks down metabolic wastes. Enzyme deficiency can cause waste products to accumulate inside the cell.


6. Glycogen storage disease

Problems with sugar storage can lead to high blood sugar, muscle aches, and weakness.


Symptoms of hereditary metabolic disorders

The symptoms of these disorders vary according to the problem, but in general, the following can be mentioned:


  • Convulsions;
  • Lethargy;
  • Vomit;
  • stomach ache;
  • Weight Loss;
  • Decreased appetite;
  • Growth disorder;
  • Difficulty gaining weight or growing;
  • The abnormal odor of urine, breath, sweat, or saliva.


These symptoms can be sudden or gradual and can be caused by food, medication, dehydration, mild illness, or other factors. The symptoms appear within a few weeks after birth in many diseases, but the symptoms may last for years in some other conditions.


Symptoms of metabolic disorders in children include:

  • Vomit;
  • Anorexia;
  • Lethargy or fatigue;

Diagnosis of metabolic disorders in adults

Your doctor may ask about your symptoms and review your medical and family history. Your doctor may also examine your family members for a history of metabolic disorders that may indicate genetic problems.

Metabolic disorders can cause a wide range of problems. Therefore, your doctor may use a variety of tests to diagnose the disease. Some diseases, such as Gaucher’s disease, have different symptoms that prolong the diagnosis. However, the diagnosis process is usually accompanied by a blood test. For example, this test can show abnormal blood sugar, a symptom of diabetes.


The treatment of these disorders has several general principles:

  • Elimination of toxins accumulated in the body;
  • Reduce or eliminate foods or drugs that cannot be metabolized.
  • Replace removed or inactivated enzymes or chemicals to bring the fuel as close to normal as possible.
  • For example, type 1 diabetes requires daily insulin injections, and type 2 diabetes involves a combination of medications and lifestyle changes such as diet and exercise.


When to see a doctor?

If metabolic disorders are not treated, they can become serious. See your doctor in the following cases:

Regular vomiting;

Yellowing of the skin;

Feeling tired and weak;

Unwanted weight loss or gain;

Feeling hungry or thirsty despite eating or drinking.

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