Metabolic disorders are conditions that affect any aspect of metabolism. Examples of metabolic disorders include diabetes, Gaucher’s disease, and hemochromatosis. Symptoms can include tiredness, weight loss or gain, and nausea and vomiting.

Metabolism is a term that describes the biochemical processes that allow people to grow, reproduce, repair damage, and respond to their environment. A metabolic disorder is a condition that impairs these processes.

For example, it could affect the availability of enzymes for breaking down food or how efficiently cells can produce energy. The disorders include a range of conditions that cause different symptoms and complications within the body.

In this article, we will discuss some common types of metabolic conditions.

An image of a meal that a person with a metabolic disorder may struggle to metabolize.Share on Pinterest
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Metabolism refers to the ongoing biochemical processes that maintain the functioning of living organisms. It is the balance of two processes:

  • Catabolism: Producing energy from breaking down larger molecules into smaller ones. For example, this may involve breaking down carbohydrate molecules into glucose.
  • Anabolism: Consuming energy to build new cells, maintaining body tissues, and storing energy.

A metabolic disorder occurs when abnormal chemical reactions disrupt the body’s metabolism. This could affect how well the body can break down large molecules for energy, how efficiently cells can produce energy or cause problems with energy regulation.

For example, diabetes interferes with how the body uses or regulates the hormone insulin. Insulin helps glucose to enter cells around the body and provide energy. It also allows the body to store glucose in muscle or liver tissue. As insulin does not work correctly in people with diabetes, it can result in high levels of glucose in the blood, which can cause a range of health problems.

Metabolism is a complex process that involves many biochemicals, tissues, and organs. This means there are many opportunities for something to go wrong and cause a metabolic disorder. Some examples of causes are:

  • Genetics: Genes can influence metabolic processes in a variety of ways. For example, people with Gaucher’s disease have a genetic mutation that limits the production of glucocerebrosidase, an enzyme for breaking down fats. This can cause a harmful buildup of fat around the body.
  • Organ dysfunction: Organs involved in metabolism can fail to function properly. For example, diabetes can occur when the pancreas is unable to produce sufficient insulin to regulate blood glucose levels.
  • Mitochondrial dysfunction: Mitochondria are small parts of cells that primarily produce energy. Mutations of the mitochondria or cell DNA, or environmental triggers, can affect how well mitochondria function and how much energy they can produce.

It is not always clear what causes a metabolic disorder. For example, type 1 diabetes results from the immune system mistakenly attacking cells in the pancreas. However, medical professionals are not sure what causes this problem with the immune system.

The complexity of metabolism means there are many types of metabolic disorders. The National Center for Advancing Translational Sciences currently lists more than 500 metabolic disorders. Many of these are rare genetic disorders, but examples are:


Diabetes is a condition that prevents the body from properly regulating blood glucose levels with insulin. The American Diabetes Association states that more than 34 million Americans had diabetes in 2018, which is around 11% of the population. The most common types of diabetes are:

  • Type 1 diabetes: This is an autoimmune disorder where the immune system mistakenly attacks cells in the pancreas and limits insulin production. People with type 1 diabetes require daily insulin medications to regulate their blood glucose.
  • Type 2 diabetes: This is where the body is unable to use insulin properly. It can develop at any age and may result from certain lifestyle factors, such as a poor diet.
  • Gestational diabetes: This affects some people during pregnancy and usually goes away after birth. However, it can increase the risk of type 2 diabetes in later life.

Gaucher’s disease

Gaucher’s disease is a rare genetic disorder that affects around 6,000 people in the United States. It is the result of a genetic mutation that limits the production of glucocerebrosidase. Insufficient amounts of this enzyme cause the accumulation of lipids, which are fatty substances.

Lipids typically accumulate in the spleen or liver, which can cause them to grow larger than they should be and lead to a range of problems. Most people with the condition have type 1 Gaucher’s disease, which causes symptoms that include tiredness and bruising easily.


Hemochromatosis is a condition that affects how the body absorbs iron. It can result from a mutation in the HFE gene or excessive iron from a person’s diet or blood transfusions. The disease causes iron buildups that can lead to symptoms including:

  • tiredness or weakness
  • joint pains
  • sexual difficulties
  • stomach pain
  • darkening of the skin

Phenylketonuria (PKU)

PKU is where someone is born without the ability, or has a reduced ability, to produce phenylalanine hydroxylase. This is an enzyme that is important for processing amino acids. Metabolic processes use amino acids to build proteins, which are essential for bodily growth and development.

The body breaks down excess amino acids and removes them. However, people with PKU are unable to process excess amino acids, which can build up to cause brain damage. Early treatment is necessary to prevent severe complications from PKU.

Mitochondrial disorders

Mitochondrial disorders are a group of conditions that prevent the mitochondria from producing enough energy for cells to function correctly. They usually result from a genetic mutation that passes through families.

These disorders can affect any part of the body as all cells contain mitochondria and require energy. For example, they can affect muscle growth and function or cause diabetes.

Metabolic disorders are diverse and can affect many aspects of bodily functioning. Common symptoms include:

  • tiredness
  • muscle weakness
  • unexpected weight gain or loss
  • changes in skin color
  • stomach pain
  • nausea or vomiting
  • reduced appetite
  • developmental problems in babies and infants

A doctor will ask about symptoms and check medical and family histories. They will look for the presence of metabolic diseases in family members, which may indicate a genetic cause.

Metabolic disorders can have a wide range of impacts on the body. This means that doctors may use several different medical tests to identify the problem. Some conditions, such as Gaucher’s disease, have such a range of symptoms that it can take longer for doctors to diagnose them.

However, a diagnosis will typically involve a blood test. For example, doctors may use a blood test to check for abnormal blood glucose levels, which are a sign of diabetes.

Metabolic disorders have a wide range of treatments depending on the cause. Many of these conditions are genetic or currently without a cure. This means that a person could require lifelong medications or need to make lifestyle changes to manage their symptoms.

For example, type 1 diabetes requires daily insulin shots to manage blood glucose levels. People with type 2 diabetes may need a combination of medicines and lifestyle changes, such as diet and exercise.

Metabolic disorders can become serious without treatment. Experts may recommend seeing a doctor if a person is:

  • losing or gaining weight unintentionally
  • feeling hungry or thirsty while drinking and eating
  • having to urinate regularly
  • feeling tired and weak
  • vomiting regularly
  • developing yellowish skin

Metabolic disorders affect some aspects of metabolism, which can result in a range of symptoms or complications. They typically occur due to the body producing too much or too little of a substance. Genetic mutations affecting biochemical processes are the cause of many metabolic disorders.

People who experience any symptoms of a metabolic disorder should contact a doctor right away. Symptoms of a metabolic condition can worsen without treatment and may lead to serious complications.