What is a Metabolic Disorder? A Detailed Guide

A metabolic disorder is when your body’s metabolism is not working correctly. 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 blood sugar metabolism is not working correctly, it can lead to diabetes, a common metabolic condition. 

There are many different types of metabolic diseases. One can inherit some of them, while one can acquire others during their lifetime. In most conditions, one of the organs involved in metabolism is not working correctly. Often, the underlying cause of a metabolic disorder can be treated, which will resolve the condition.

Common Metabolic Disorders

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

Diabetes

Type 1 diabetes

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

Read more: Type 1 Diabetes Diet: The Healthiest Foods to Eat

Type 2 diabetes

Type 2 diabetes is a much more common metabolic disorder. In this situation, the body cannot utilise insulin as expected. It can appear at any age, brought on by specific lifestyle choices, such as an unhealthy diet.

Gestational diabetes

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

Read more: Gestational Diabetes Diet: Foods to Eat and Avoid

Hemochromatosis

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

Moreover, it can lead to iron buildup, producing symptoms like tiredness or chronic muscle weakness, joint pains, stomach aches, and a darker complexion.

Gaucher’s Disease

According to studies, Gaucher’s disease is a rare inherited metabolic disorder resulting from a genetic mutation that restricts the production of glucocerebrosidase. Insufficient levels of this enzyme bring on the accumulation of fatty compounds (lipids).

Maple Syrup Urine Disease (MSUD)

MSUD interferes with the metabolism of several amino acids, which quickens the degeneration of the neurons. If untreated, it results in death within the first few months after birth. 

Phenylketonuria (PKU)

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

This gene aids in the production of the enzyme required to degrade phenylalanine. When a person with PKU consumes aspartame, an artificial sweetener, or foods containing protein, a severe buildup of phenylalanine can occur since they lack the enzyme required to break down this amino acid. It may ultimately result in severe health issues and metabolic problems. 

Mitochondrial Disorders

Mitochondrial disorders are a group of conditions that prohibit the mitochondria from creating adequate energy for cells to operate normally. They are typically the outcome of a genetic mutation-related metabolic disorder. 

Causes of Metabolic Disorders

The metabolism process is a complex pathway and involves several biochemicals, tissues, and organs. Therefore, the likelihood of something going wrong and resulting in a metabolic disorder is very high. However, the exact cause of certain metabolic diseases is not always known.

For example, doctors are still unsure why type 1 diabetes, an autoimmune disorder, affects some people. Sometimes, metabolic disorders arise due to a combination of inherited and environmental factors.

Organ Dysfunction

Organs engaged in metabolism are susceptible to malfunction. For instance, diabetes can develop when the pancreas cannot generate enough insulin to control blood sugar levels.

Genetics

Genetic mutation is the common cause of inherited metabolic disorders. A gene that tells the body how to perform metabolic processes mutates. Parents can pass down this genetic change to 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

The mitochondria are the cell’s powerhouses. The efficiency with which mitochondria function and the energy they can generate can get impacted by environmental agents, mutations in the mitochondria, or cell DNA.

Other causes of metabolic disorders are

• Diuretic abuse
• Alcohol abuse
• Gout
• Sepsis
• Kidney failure
• Respiratory failure or pneumonia

The HealthifyMe Note

Disturbances or malfunctions in normal metabolic processes develop into metabolic disorders. It can lead to frequent infections, chronic or persistent diarrhoea, muscle weakness, low blood sugar, fatigue, and bone abnormalities. Some metabolic disorders are genetic, while some don’t have a known cause. Prevention can be difficult when metabolic disorders are genetic or when the cause is unknown.

Diagnosis and Management

Metabolic diseases can be present at birth, and routine screening can help with early diagnosis.  However, a metabolic disorder may only get discovered once symptoms appear later in life if identified early.

Genetic metabolic disorders can get identified using specific blood and DNA tests. To develop a treatment that will be more effective for the patient, doctors must know the disorder’s genotype.

The treatment approach depends on the specific metabolic disorder. For example, treatment for inborn metabolism errors differs from an acquired metabolic disorder. Treating acquired metabolic disorders focuses on normalising the metabolic balance by reversing the cause and administering medications.

You can treat inherited metabolic disorders in a variety of ways. Examples include:

• The use of enzyme replacement therapy (selected patients)
• Gene therapy (selected patients)
• Medications or surgery to reduce or relieve pain
• Mineral supplementation
• Nutritional counselling
• Bone marrow transplantation
• Physical therapy
• Drugs for low blood sugar
• Vitamin supplementation

Conclusion

Metabolic disorders can be due to inherited and environmental factors disrupting your body’s complex metabolism. You can have inborn errors of metabolism or acquire them during your lifetime. 

There can be severe health complications of untreated metabolic disorders, even life-threatening in some cases. Therefore, minimise the risk by following a personalised treatment plan.