- 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:
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- 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.