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Mayo Clinic is among the premier medical centers in testing, diagnosis and treatment of inherited metabolic disorders, treating between 500 and 900 patients with these disorders each year. Mayo is also a leading research center for identifying the causes and exploring new treatments for these conditions.
Patients and their families benefit from multiple medical specialists who coordinate in the diagnosis and treatment of patients. Mayo Clinic offers extensive experience and expertise in the areas of neurological assessments, genetic counseling, testing and state-of-the-art treatments.
Mayo's Biochemical Genetics Laboratory, one of the largest laboratories of its kind in the nation, offers leading-edge testing and research for a broad array of metabolic disorders. In an effort to improve early diagnosis of metabolic disorders, Mayo offers the Mayo Supplemental Newborn Screening program, which is available to interested hospitals.
Prior to a child being diagnosed with a metabolic disorder, parents often come to Mayo Clinic because their child has a combination of symptoms that lack a diagnosis for the underlying cause. Symptoms may include developmental delays, mental retardation, birth defects, an abnormally small head or brain, seizures, abnormal movements, stunted growth and other symptoms. In some cases, the child may have been misdiagnosed with cerebral palsy, autism or other conditions whose symptoms can be similar to metabolic disorders.
Adults with metabolic disorders may have a combination of symptoms that lack a diagnosis or have been misdiagnosed.
Because there are thousands of metabolic disorders and the various symptoms can mimic more common diseases or conditions, they can be difficult to diagnose. Read more about metabolic disorder diagnosis.
Treatment for metabolic disorders is tailored to each individual, and depends on numerous variables, including the type and severity of the metabolic disorder, the extent the disorder has affected the patient's brain and body functions, options for appropriate clinical trials and other considerations. Read more about metabolic disorder treatment options.
Metabolic disorders refer to a broad array of medical problems caused by inherited genetic defects that interfere with the body's metabolism. Most metabolic genetic defects are passed from both parents to their biological child. While there are thousands of metabolic disorders, each caused by a different genetic defect, they cumulatively affect about one in every 4,000 people.
Metabolism is the complex process in which the body turns food into energy. The body uses enzymes to break down digested food into simple substances that can be absorbed by body cells and used as energy. Other enzymes build essential substances within body cells which cannot be obtained from the diet or break down substances that are no longer needed.
The genetic defect may cause an enzyme to function abnormally or cause the body to produce too little or none of an enzyme. In some cases, the defect means certain substances are not broken down and can build to toxic levels. In other cases, the body is not able to provide a critical substance to body cells. Metabolic disorders are classified into types based on the components of the cell involved, biochemical pathways and which enzyme is affected.
A few metabolic disorders include:
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