Definition: Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects most commonly inherited from both parents that interfere with the body's metabolism. These conditions may also be called inborn errors of metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life, including energy production. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them. Some metabolic disorders can be diagnosed by routine screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder.
Symptoms: People with inherited metabolic disorders may have a variety of symptoms without a diagnosis, or they may have been misdiagnosed. Parents often come to Mayo Clinic because their child has several symptoms, such as developmental delays, birth defects, an abnormally small head or brain, seizures, abnormal movements, growth problems, or others. In some cases, children may have been misdiagnosed with cerebral palsy or other conditions whose symptoms can be similar to inherited metabolic disorders.
Treatment and Statistics: Treatment for an inherited metabolic disorder depends on the type and severity of the disorder. Because there are so many types of inherited metabolic disorders, treatment recommendations may vary considerably from dietary restrictions, certain vitamins or other therapies to medication or surgery. Options for participating in a clinical trial also may be considered. Out of the estimated population 199131442 Right Diagnosis conducted a survey and concludes that the extrapolated incidence of inherited metabolic disorder patients was found to be 2,342,722