Common Metabolic Disorders

Think about that cup of coffee you had in the morning or maybe that breakfast sandwich you got on your way to work. You get a boost of energy to start your day off, and it’s all thanks to a biological process in our bodies called metabolism.

Metabolism refers to the chemical processes which occur within our body and give us energy. When we consume food, our body breaks it down into three substances: carbohydrates, fats and proteins. These substances are carried to different parts of our body, giving us fuel we need to function.

A metabolic disorder refers to the disruption of the metabolic pathways leading to an imbalance of certain amino acids and lipids which, if unchecked, can drastically affect one’s physical health.

Our bodies are very sensitive to minute changes to metabolism. We require a certain amount of amino acids derived from the protein we consume in our food, and unhealthy diets are a huge determinant of our overall gut health.

Types of Metabolic Disorders

“Disorders related to metabolism are very complicated as the chemical processes involve multiple tissues, organs and biochemicals,” says Dr. Lindsay Clark, MD, a specialist in reproductive and metabolic medicine. “Complications can manifest in several forms, depending on the cause of these abnormalities.”

Some disorders can mutate the mitochondria within our cells, which are responsible for the production of energy.

Other types affect the breakdown of proteins, carbohydrates, and fats; each affecting different organs in our body such as the liver or pancreas. Interference with the breakdown process can lead to the development of diseases or loss of function in certain organs.

Genetics plays a huge factor in determining one’s metabolism. A single deformed or missing enzyme can adversely affect the metabolism’s ability to perform. Depending on the enzyme’s function, changes to the overall metabolic process can lead to excess toxic chemicals being produced, or essential substances not broken down further.


The most common metabolic disorder is a condition called diabetes which prevents our bodies from regulating glucose levels in the blood. There are two main types of diabetes:

  • Type 1 diabetes is an autoimmune disorder where the immune system targets cells in the pancreas that limit the production of insulin. This requires a regular treatment of daily insulin medication in order to regulate blood glucose levels.
  • Type 2 diabetes refers to the body’s inability to use insulin properly as a result of certain stressors to the body or lifestyle choices such as poor diet. 
  • Gestational diabetes usually affects individuals during pregnancy and generally disappears after giving birth, however, it increases the risk of developing type 2 diabetes in the future.

Over time, a lack of insulin in the body can cause severe problems including risk of heart and vascular disease, impairment of eyesight, and damage to kidneys and nerves. More than 30 million adults and children are affected by diabetes in the United States, according to the American Diabetes Association. That’s over 9% of the entire population.


This is a condition that affects how the body processes iron intake. Hemochromatosis can result from blood transfusions, a mutation of the HFE gene, or through poor diet. Excessive iron buildup can lead to symptoms such as joint and stomach pains, lethargy and weakness, darkening of the skin and more serious complications including liver cancer or cirrhosis, heart disease and even other metabolic disorders like diabetes.

Hemochromatosis is usually treated through phlebotomy on a regular basis. Blood is extracted from one’s body in order to reduce the iron content.

Gaucher’s Disease

Rare genetic disorders such as Gaucher’s, result in a mutation which inhibits the production of glucocerebrosidase, a vital enzyme that breaks down lipids in our bodies. Without this enzyme, these fatty substances accumulate in excess amounts stored in the liver and spleen, consequently causing them to enlarge.

People with type 1 Gaucher’s disease usually experience symptoms such as lethargy and bruising easily. In worst case scenarios, when not treated properly, it can be fatal. Treatment of Gaucher’s involves enzyme replacement therapy.

Phenylketonuria (PKU)

Another congenital disease which prevents the production of phenylalanine hydroxylase—an enzyme responsible for the conversion of amino acids into neurotransmitters such as epinephrine, norepinephrine, and dopamine—is Phenylketonuria. PKU affects the gene that generates phenylalanine hydroxylase, thus causing a buildup of amino acids.

If left untreated, PKU can cause brain damage, stunted growth, hyperactivity, and skin conditions like eczema. Treatment of this genetic disorder incorporates a special diet that one must follow as well as regular medications.

Importance of Metabolism

Recognizing metabolism as an important function of the body can prolong life and improve health. Metabolic disorders are complex, influencing how we process our food. Thorough research and studies of metabolism can help us better comprehend the underlying causes of common problems.

Though we can’t always prevent disorders that are genetic, there are lifestyle choices we can make to reduce the chances of developing type 2 diabetes, which is the most common metabolic disorder. Following a healthy diet consisting of vegetables, whole grains, and fruits can decrease risk, as can staying active with a steady exercise routine.

If you have a metabolic disorder, work with your primary care provider or doctor to find the right treatment for you.

Written by Eric

37-year-old who enjoys ferret racing, binge-watching boxed sets and praying. He is exciting and entertaining, but can also be very boring and a bit grumpy.