What are metabolic disorders?
Metabolism is the breaking down of food to its simpler components: proteins, carbohydrates (or sugars), and fats. Metabolic disorders occur when these normal processes become disrupted. Disorders in metabolism can be inherited, in which case they are also known as inborn errors of metabolism, or they may be acquired during your lifetime. Many metabolic disorders exist, and they are common in the United States. For, instance, diabetes is metabolic disease that affects approximately 26 million Americans (Source: CDC).
Phenylketonuria is an example of an inherited metabolic disorder characterized by an inability to break down one of the building blocks of protein, the amino acid phenylalanine. Type I diabetes, a disease in which the pancreas does not create enough insulin to maintain balanced blood sugar levels, is a metabolic disorder of sugar metabolism. An example of a metabolic disorder affecting fat metabolism is Gaucher’s disease, which is characterized by a lack of the of the enzyme glucocerebrosidase. Metabolic disorders can also be complications of severe diseases or conditions, including liver or respiratory failure, cancer, chronic obstructive pulmonary disease (COPD, includes emphysema and chronic bronchitis), and HIV/AIDS.
Enormous advances have been made in the recognition and treatment of metabolic disorders. Sometimes there are highly complex pathways that result in a metabolic disorder. At other times, one miniscule error in an individual’s DNA is solely responsible. These discoveries have permitted scientists to develop extraordinary treatments for affected individuals, and the pace of discovery continues to accelerate.
Symptoms of metabolic disorders will vary among individuals and by the type of disorder. Some metabolic disorders result in mild symptoms that can be managed with medication and lifestyle changes, while others can cause severe and life-threatening symptoms, such as breathing problems, seizure, and organ failure. Some inherited metabolic disorders can require long-term nutritional supplementation and treatment, while metabolic disorders that arise as a result of another disease or condition often resolve once the underlying condition is treated.
Seek immediate medical care (call 911) for serious symptoms, such as severe difficulty breathing; bluish coloration of the lips or fingernails; seizure; and change in level of consciousness or alertness, such as passing out or unresponsiveness.
Seek prompt medical care if you are being treated for metabolic disorders but mild symptoms recur or are persistent.
What are the symptoms of metabolic disorders?
Metabolic disorders cause disturbances in the normal chemical processes in the body and will result in different symptoms, depending on the particular disorder. The symptoms can vary in intensity among individuals.
Symptoms of inherited metabolic disordersSymptoms of metabolic disorders that run in families include:
- Body fluids that have a mapl... Read more about metabolic disorderssymptoms
What causes metabolic disorders?
Metabolic disorders develop when normal metabolic processes are disturbed. Normally, food is broken down by the body into simpler components (proteins, fats and sugars) in a highly regulated manner. Metabolic disorders are defined by a breakdown in any one of the steps of this complex process. Disorders in metabolism can be inherited, in which case they are known as inborn errors of metabolism,... Read more about metabolic disorderscauses
How are metabolic disorders treated?
Treatment for metabolic disorders begins with seeking medical care from your health care provider. The treatment approach for metabolic disorders depends on the specific disorder. Inborn errors of metabolism (inherited metabolic disorders) are often treated with nutritional counseling and support, periodic assessment, physical therapy, and other supportive care options. Acquired metabolic disor... Read more about metabolic disorderstreatments