Metabolic Disease Samples

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

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.

Although, a metabolic disorder occurs when abnormal chemical reactions disrupt the body’s metabolism. However, 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. Hence, it also allows the body to store glucose in muscle or liver tissue.

Moreover, 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.

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 disorderwhere 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 women 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. However, 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.

Although, 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. Additionally, most people with the condition have type 1 Gaucher’s disease, which causes symptoms that include tiredness and bruising easily.

Hemochromatosis

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

• Darkening of the skin
• Joint pains
• Sexual difficulties
• Tiredness or weakness
• Stomach pain

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.

Although, 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. Therefore, 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.

Albeit, 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.