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. Also, certain chemical processes break down substances that your body no longer needs, or make those it lacks.
When these chemical processes don't work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs. Inherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can't be broken down), it's too low, or it's missing.
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.
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.
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