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What is a metabolic disorder? Detailed guide – HealthifyMe

Written by hana

A metabolic disorder occurs when the body’s metabolism does not work properly. Metabolism is the process of breaking down food into simpler components, such as proteins, carbohydrates (or sugars), and fats.

Any disruption in the process leads to a metabolic disorder. For example, if your blood sugar metabolism is not functioning properly, it can lead to diabetes, which is a common metabolic condition.

There are different types of metabolic diseases. One can inherit some of them, while others can be acquired during one’s lifetime. In most cases, one of the organs involved in metabolism is not working properly. Often, the underlying cause of the metabolic disorder can be treated, resulting in resolution of the condition.

There are more than 500 metabolic disorders. Many of them are rare genetic disorders.


Type 1 diabetes

An autoimmune condition prevents the pancreas from producing enough insulin because the immune system mistakenly attacks and destroys the insulin-producing cells of the pancreas. As a result, patients who have Type 1 diabetes They must take daily doses of insulin to control their blood sugar.

Read more: Type 1 diabetes diet: The healthiest foods to eat

Type 2 diabetes

Type 2 diabetes is a more common metabolic disorder. In this condition, the body cannot use insulin as expected. It can appear at any age, due to specific lifestyle choices, such as an unhealthy diet.

Pregnancy diabetes

Some women experience this during pregnancy, which usually goes away once the baby is born. However, the risk of developing type 2 diabetes can increase after gestational diabetes.

Read more: Pregnancy diabetes diet: Foods to eat and avoid


A disorder known as hemochromatosis interferes with the body’s ability to absorb iron. It can be due to a genetic mutation, too much iron in the diet, or blood transfusions.

Moreover, it can lead to a buildup of iron, which leads to symptoms such as fatigue or chronic muscle weakness, joint pain, stomachache, and a darkened complexion.

Gaucher disease

According to studies, Gaucher disease is a rare inherited metabolic disorder caused by a genetic mutation that restricts glucocerebrosidase production. Inadequate levels of this enzyme lead to the buildup of lipid compounds (fats).

Maple syrup urine disease (MSUD)

MSUD interferes with the metabolism of several amino acids, which accelerates neuronal degeneration. If not treated, it leads to death within the first few months after birth.

phenylketonuria (PKU)

Phenylketonuria, or phenylketonuria, is a rare inherited metabolic disorder that results in a buildup of the amino acid phenylalanine in the body. The phenylalanine hydroxylase (PAH) gene is altered in phenylketonuria.

This gene helps produce the enzyme required to break down phenylalanine. When a person with phenylketonuria consumes aspartame, an artificial sweetener, or foods that contain protein, a severe buildup of phenylalanine can occur because they lack the enzyme required to break down this amino acid. It may eventually lead to serious health problems and metabolic problems.

Mitochondrial disorders

Mitochondrial disorders are a group of conditions that prevent mitochondria from producing enough energy for cells to function normally. It is usually the result of a metabolic disorder associated with a genetic mutation.

Metabolism is a complex pathway that involves many biochemicals, tissues, and organs. Therefore, the possibility of something going wrong and resulting in a metabolic disorder is very high. However, the exact cause of some metabolic diseases is not always known.

For example, doctors still aren’t sure why type 1 diabetes, an autoimmune disorder, affects some people. Sometimes, metabolic disorders arise due to a combination of inherited and environmental factors.

Device vulnerability

Organs involved in metabolism are prone to malfunction. For example, diabetes can develop when the pancreas cannot produce enough insulin to control blood sugar levels.


Genetic mutation is a common cause of inherited metabolic disorders. The gene that tells the body how to conduct metabolic processes turns on. The parents can pass this genetic change on to the children, or it can happen on its own.

For example, fatty acid oxidation defects, amino acid disorders, and carbohydrate disorders are the inherited causes of metabolic disorders.

Mitochondrial dysfunction

Mitochondria are the power centers of the cell. The efficiency with which mitochondria function and the energy they can generate can be affected by environmental factors or mutations in the mitochondria or the cell’s DNA.

Other causes of metabolic disorders are

  • Diuretic abuse
  • Alcoholic
  • gout
  • Sepsis
  • Renal failure
  • Respiratory failure or pneumonia

HealthifyMe note

Disturbances or malfunctions in normal metabolic processes develop into metabolic disorders. It can lead to frequent infections, chronic or persistent diarrhea, muscle weakness, low blood sugar, fatigue, and bone deformities. Some metabolic disorders are hereditary, and others have no known cause. Prevention can be difficult when metabolic disorders are hereditary or when the cause is unknown.

Diagnosis and management

Metabolic diseases can be present at birth, and a routine examination can aid in early diagnosis. However, a metabolic disorder may only be detected once symptoms appear later in life if it is identified early.

Genetic metabolism disorders can be identified using specific blood and DNA tests. To develop a treatment that will be most effective for the patient, doctors must know the genetic makeup of the disorder.

The approach to treatment depends on the specific metabolic disorder. For example, the treatment of inborn errors of metabolism is different from that of an acquired metabolic disorder. Treatment of acquired metabolic disorders focuses on normalizing the metabolic balance by reversing the cause and administering medications.

You can treat inherited metabolic disorders in several ways. Examples include:

  • Use of enzyme replacement therapy (selected patients)
  • Gene therapy (selected patients)
  • Medications or surgery to reduce or relieve pain
  • mineral supplements
  • Nutritional advice
  • Bone marrow transplant
  • physical therapy
  • Medicines for low blood sugar
  • Vitamin supplements


Metabolic disorders can be caused by both genetic and environmental factors that disrupt the complex metabolism of the body. You can have inborn errors of metabolism or acquire them during your life.

Untreated metabolic disorders can have serious health complications, even life-threatening in some cases. Therefore, reduce the risks by following a personalized treatment plan.

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