Inherited metabolic disorders are rare genetic conditions that cause a person’s metabolism to not work properly. Metabolism is the essential chemical processes that converts food into energy and removes toxins from your body. Defects in genes passed down from parents can result in abnormal chemical reactions that interfere with metabolism.
Inherited metabolic disorders affect your body’s ability to convert food into energy and remove waste and unhealthy substances. Some conditions can damage cell development and brain function. Inherited metabolic disorders are also known as hereditary metabolic disorders and inborn errors of metabolism.
Metabolism refers to chemical processes that occur in the body. Your body needs these processes to sustain life. Inherited metabolic disorders occur when abnormal chemical reactions interfere with these processes.
Some inherited metabolic disorders can be detected before birth, or at birth during a routine physical exam. Or symptoms may appear later.
Doctors have identified hundreds of inherited metabolic disorders. Most of these conditions are very rare. Symptoms and treatments will vary greatly for these disorders and diseases.
Among the hundreds of inherited metabolic disorders include:
People at higher risk for inherited metabolic disorders include those who have a family history of the condition.
Defects in genes passed down from your parents cause inherited metabolic disorders. Gene changes can cause a deficiency in hormones or enzymes. These deficiencies cause abnormal chemical reactions that keep the metabolism from working properly.
The symptoms of inherited metabolic disorders vary depending on the condition. Some symptoms are mild, while others are debilitating. Some symptoms are:
Doctors diagnose metabolic disorders with screening tests. Blood tests and a physical exam are standard parts of the diagnosis process. With so many inherited metabolic disorders, each kind of testing or screening will be different. The variety of diagnostic tools include:
Treatment is limited because an inherited metabolic disorder is the result of a genetic defect and varies depending on the condition. Many treatments involve changing foods or drugs that can’t be metabolized properly. Some people can take enzyme or chemical replacements to help their metabolism return to close to normal function. Other treatments might be used to remove toxic metabolic byproducts. Gene therapies are all in experimental and early trial phases and aren’t available as routine therapies, but are promising for certain disorders.
Metabolic disorders have different complications, depending on the condition. Various disorders can cause problems with energy, growth, waste removal from the body and other functions or even seizures.
People with inherited metabolic disorders who want to have children should talk to a genetic counselor. The counselor can help you learn about the risks of passing the condition on to your biological child.
The outlook for people with inherited metabolic disorders varies depending on the condition. Some of the disorders can be life-threatening. But doctors help many people successfully manage the conditions so they can live active, healthy lives.
If you are pregnant, ask your provider about prenatal and newborn screenings for your baby to identify inherited metabolic disorders.
If you have an inherited metabolic disorder, you may want to ask your provider:
For many people, inherited metabolic disorders do not interfere with daily activities. Your provider will help you understand when a condition may disrupt your regular activities and when it is safe to return to them.
Last reviewed by a Cleveland Clinic medical professional on 03/30/2020.
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