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.
Mayo Clinic also offers:
March 31, 2015
- Other assessments and treatments. Certain inherited metabolic disorders may also increase risk of other conditions, such as heart, vision or hearing problems. For those at risk of developing such problems, the doctor may recommend regular heart, vision or hearing checkups and treatments.
- Supportive care. For some inherited metabolic disorders, such as Tay-Sachs disease, currently there is no cure. In these cases, Mayo Clinic provides supportive care for children and their families in coordination with their local health care providers.
- 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.