- Experience. Mayo Clinic is among the top medical centers in testing, diagnosis and treatment of inherited metabolic disorders. Each year, Mayo Clinic doctors care for about 800 people with inherited metabolic disorders. Experience is important because there are so many types of inherited metabolic disorders and their symptoms can mimic more common diseases or conditions, making them difficult to diagnose.
- Expertise and team approach. The key to accurate diagnoses of inherited metabolic disorders includes coordination among different medical specialties. Depending on the type and severity of the disorder and your age, your Mayo Clinic team of experts may include specialists in pediatrics, developmental pediatrics, neurology, endocrinology, medical genetics, nutrition and other areas.
- Newest tests. Mayo Medical Laboratories offers comprehensive testing for inherited metabolic disorders. The Biochemical Genetics Laboratory at Mayo Clinic, one of the largest laboratories of its kind nationwide, uses other state-of-the-art methods to identify inherited metabolic disorders and offers supplemental newborn screening. Identifying and treating inherited metabolic disorders in newborns before symptoms appear can dramatically improve outcomes. The Molecular Genetics Laboratory offers DNA and molecular testing.
Inherited metabolic disorders fall into different categories, depending on whether a specific substance (such as amino acids, fats, proteins or carbohydrates) builds up in harmful amounts or is too low or missing. There are hundreds of inherited metabolic disorders, caused by different genetic defects. Examples include the following:
Mayo Clinic: Answers you can trust
At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.
Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.
Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.
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March 31, 2015
- Longo DL, et al. Inherited disorders of amino acid metabolism in adults. In: Harrison's Principles of Internal Medicine. 18th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com. Accessed Feb. 8, 2015.
- Hay WW, et al. Inborn errors of metabolism. In: Current Diagnosis & Treatment: Pediatrics. 22nd ed. New York, N.Y.: McGraw-Hill Education; 2014. http://accessmedicine.com. Accessed Feb. 8, 2015.
- Golden, AK. Decision Support System. Mayo Clinic, Rochester, Minn. Jan. 20, 2015.
- Introduction: Hereditary Metabolic Disorders: The Merck Manuals: Home Edition for Patients and Caregivers. http://www.merckmanuals.com/professional/pediatrics/inherited_disorders_of_metabolism/introduction_to_inherited_disorders_of_metabolism.html. Accessed Feb. 8, 2015.
- Sutton VR. Inborn errors of metabolism: Classification. http://www.uptodate.com/home. Feb. 8, 2015.
- Leach EL. Treatable inborn errors of metabolism presenting as cerebral palsy mimics: Systematic literature review. Orphanet Journal of Rare Diseases. 2014;9:197.
- Sutton VR. Inborn errors of metabolism: Identifying the specific disorder. http://www.uptodate.com/home. Feb. 8, 2015.