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Metabolic disorders; From cause to treatment

Study guide

Our body needs energy to do different things. This energy is provided by the processes of metabolism (fuel) of materials. Metabolic disorders are conditions that affect different aspects of the fuel, so some people may produce too much or too little of a substance that is likely to cause disease. In this article, we will become more familiar with the types of metabolic disorders, their symptoms and ways of diagnosing and treating them.

What are metabolic disorders?

Metabolism is the various chemical processes that take place in the body to maintain normal 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 processes:

  • Catabolism: Production of energy from the breakdown of large molecules into smaller molecules, such as the breakdown of carbohydrate molecules into glucose.
  • Anabolism: Spend energy building new cells, maintaining body tissue and storing energy.

The following are examples of in-body metabolites:

  • Decomposition of carbohydrates, proteins and fats in foods to release energy;
  • Conversion of excess nitrogen into fecal wastes in urine;
  • Breaking or converting chemicals into other substances and transporting them into 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 produce energy, or problems with energy regulation.

For example, insulin helps cells absorb glucose and produce energy, storing glucose in muscles and liver tissue, and diabetes interferes with how the body consumes or regulates the hormone insulin. If insulin does not work properly in people with diabetes, blood sugar can rise and can cause a variety of problems.

Metabolic disorders in children

Pediatric Metabolic Disorder Occurs when a child’s body is unable to properly process nutrients such as fat, protein and sugar. Metabolic disorders in young children are usually congenital and in older children are usually due to obesity, which can lead to type 2 diabetes and heart disease.

What causes a metabolic disorder?

Metabolism is a complex process that involves many biochemicals, tissues, and organs. So there are many opportunities for mistakes and metabolic 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. In hereditary metabolic disorders, either an enzyme is not produced or does not function properly, which, depending on the type of enzyme, can lead to the accumulation of toxic chemicals or the non-production 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, cell mutations (DNA) mutations, or environmental stimuli can affect mitochondrial function or energy production.
The exact cause of many metabolic disorders is still unknown.

Common inherited metabolic disorders

There are more than 500 metabolic disorders, some of which are rare genetic disorders. On the other hand, the following common cases can be mentioned:

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: It is an autoimmune disorder in which the immune system mistakenly attacks the cells of the pancreas and restricts insulin production. People with this condition need daily insulin injections to regulate blood sugar.
  • Type 2 diabetes: In this disease, the body is unable to produce enough insulin. The disease can occur at any age and various factors such as poor diet can play a role.
  • Gestational DiabetesThe disease usually develops during pregnancy and resolves after delivery, but can increase the risk of developing type 2 diabetes.

۲. Gucher disease

Gutcher’s disease is a rare genetic disorder in which a genetic mutation limits the production of the enzyme glucoseroside, which is involved in breaking down fat, causing fat to accumulate around the body. This fat usually accumulates in the spleen and liver and causes a variety of problems as these organs enlarge. Most people have type 1 disease and have symptoms such as fatigue and bruising.

3. Hemochromatosis

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

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

4. Phenylectonography or PKU

It occurs when a person is born with a disability or low ability to produce the enzyme phenylalanine hydroxylase. This enzyme is important for the processing of amino acids. Metabolic processes use amino acids to make proteins that are important for the growth and development of the body.

The body breaks down and removes excess amino acids. People with phenylectonuria can not process excess amino acids, the accumulation of which can cause brain damage. Prompt treatment can prevent severe complications of pneumonia.

5. Mitochondrial disorders

Mitochondrial disorders 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 that are inherited from the family.

All cells have mitochondria and need energy, so 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:

  • Fatigue;
  • stomach ache;
  • Decreased appetite;
  • Muscle weakness;
  • Skin discoloration;
  • Nausea or vomiting;
  • Unexpected weight gain or loss;
  • Developmental problems in children and infants.

6. Lysosomal storage disorder

The lysosome is the space inside the cell that breaks down the waste products of metabolism. Enzyme defects can cause waste products to accumulate inside the cell.

7. Galactosomal

Defective galactose intolerance in infants causes jaundice, vomiting, and enlarged liver after breastfeeding or formula feeding.

8. 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:

  • Coma;
  • یرقان;
  • Convulsions;
  • Lethargy;
  • Vomit;
  • Abdominal pain;
  • Weight Loss;
  • Decreased appetite;
  • Growth disorder;
  • Difficulty gaining weight or growing;
  • 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. In many diseases, symptoms develop within a few weeks of birth, but in some other diseases, symptoms can take years.

Symptoms of metabolic disorders in children

Symptoms of metabolic disorders in children include:

  • Vomit;
  • Anorexia;
  • Lethargy or fatigue;
  • Apnea (short breathing pauses);
  • Tachypnea (unusual fast breathing).

Diagnosis of metabolic disorders in adults

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

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

Diagnosis of congenital metabolic disorders

Metabolic disorders _ Diagnosis of congenital metabolic disorders

Symptoms of congenital metabolic disorders in infants are identified a few days, months, or even years after birth, and therefore birth assessments are very helpful in early diagnosis. These tests are done on the first and second day after birth using a blood sample from the baby and in the hospital, and if a suspicious case is observed, further evaluations will be performed. Some of the tests related to the diagnosis of metabolic disorders in infants in Iran include the following:

  • Favism;
  • Galactosomal;
  • Phenylketonuria;
  • Maple syrup disease;
  • Hypothyroidism.

Treatment of metabolic disorders

There are limited treatments for inherited metabolic disorders. Many of these genetic diseases have no cure at the moment, so the person needs lifelong treatment or lifestyle changes to manage the symptoms. Early treatment can prevent more severe complications.

The treatment of these disorders has several general principles:

  • Elimination of toxins that accumulate in the body;
  • Reduce or eliminate food or medicine that cannot be metabolized;
  • Replace enzymes or chemicals that have been removed or inactivated so that the fuel is as close to normal as possible.

For example, type 1 diabetes requires daily insulin injections and type 2 diabetes requires a combination of medication 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;
  • Need to urinate regularly;
  • Feeling tired and weak;
  • Unwanted weight loss or gain;
  • Feeling hungry or thirsty despite eating or drinking.

You say

As mentioned in this article, metabolic disorders affect some aspects of the metabolism that can cause a range of symptoms and side effects. Do you or those around you have a metabolic disorder? What symptoms and side effects have you experienced and what treatment have you been prescribed? If you wish, you can tell us about your experiences in the comments section and send this article to your friends through social networks.

Warning! This article is for educational purposes only and you need to consult your doctor or specialist to use it. more information






Metabolic disorders; From cause to treatment

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