LEPR deficiency

What to know about metabolic disorders

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.

Metabolic disorder definition

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.

Causes

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.

Common metabolic disorders

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

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 insulin therapy.