Metabolic disorders are conditions of the metabolism. The body’s metabolism is what allows for food to be processed into energy. Food consists of carbohydrates, fats, and proteins, which are metabolized into sugars and acids to fuel the body. When this essential process is disrupted, it produces either too much or too little of what the body needs to continue functioning. Metabolic disorders are the result of a disrupted metabolism.
Metabolic disorders can take hundreds of different forms. Something as simple as a single mutated gene can cause them. Many metabolic disorders are inherited genetically, but environmental and lifestyle factors can also influence a patient’s risk for developing a metabolic disorder.
A wide range of factors can cause metabolic disorders. Genetics is often at play when a metabolic disorder is diagnosed. Most metabolic disorders are the result of a genetic mutation that is passed down, generation after generation. Other causes of metabolic disorders are a deficiency of a hormone or enzyme, having too much or too little of specific foods, or when some organs, like the pancreas or liver, become diseased and their functions are disrupted.
The causes of metabolic disorders are not limited to this list, for there are a number of other genetic, environmental, and lifestyle factors that can influence a patient’s metabolism. See below for a more comprehensive list of risk factors or groups for some metabolic disorders.
There are hundreds of different kinds of metabolic disorders. This particular page highlights the symptoms and risk factors or groups for a few of the most common metabolic disorders, but this list is not exhaustive. The metabolic disorders discussed here are diabetes, sickle cell anemia, cystic fibrosis, hemochromatosis, Maple Syrup Urine Disease, and Gaucher disease.
Each metabolic disorder attacks a function, or several, of the body. The metabolic disorders listed here have some overlapping symptoms but tend to present in different ways. Since this is not an exhaustive list of metabolic disorders, it will not cover all possible symptoms. Please see a doctor for the development of any abnormal symptoms.
Treatments for metabolic disorders are as varied as the disorders themselves. Not all metabolic disorders target the same bodily functions, so treatments are created to target the specific functions that have been disrupted.
If a patient has family history of a specific metabolic disorder, or many, it is worth having a conversation with a doctor to see what testing is available. A genetic counselor can sometimes help parents determine their unborn child’s risk of developing a metabolic disorder, depending on which disorder is being tested. In fact, some metabolic disorders are detected during newborn screening.
However, for metabolic disorders that develop later in life, a patient should see a doctor as soon as abnormal symptoms develop. Doctors are integral to a successful, sometimes life-long treatment plan.
A patient’s outlook varies greatly once diagnosed with a metabolic disorder. Some cases are milder, while others will cause frequent, severe disruptions to daily life. Milder metabolic disorders can often be managed through a regulated diet, exercise, and some medication. More severe cases can cause patients to have lifelong pain, and can progress into severe organ damage, or death.