Print OverviewInherited 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. There are hundreds of inherited metabolic disorders, caused by different genetic defects. Examples include: Familial hypercholesterolemia Gaucher disease Hunter syndrome Krabbe disease Maple syrup urine disease Metachromatic leukodystrophy Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) Niemann-Pick Phenylketonuria (PKU) Porphyria Tay-Sachs disease Wilson's disease 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. 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 to liver transplants.Products & ServicesBook: Mayo Clinic Family Health Book, 5th EditionNewsletter: Mayo Clinic Health Letter — Digital EditionShow more products from Mayo Clinic By Mayo Clinic Staff Inherited metabolic disorders care at Mayo Clinic Request an appointment Doctors & departments July 12, 2017 Print Share on: FacebookTwitter Show references Goldman L, et al., eds. Approach to inborn errors of metabolism. In: Goldman-Cecil Medicine. 25th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. https://www.clinicalkey.com. Accessed April 11, 2017. Kliegman RM, et al. An approach to inborn errors of metabolism. In: Nelson Textbook of Pediatrics. 20th ed. Philadelphia, Pa.: Elsevier; 2016. https://www.clinicalkey.com. Accessed April 11, 2017. Sutton VR. Inborn errors of metabolism: Classification. https://www.uptodate.com/home. Accessed April 11, 2017. Sutton VR. Inborn errors of metabolism: Identifying the specific disorder. https://www.uptodate.com/home. Accessed April 11, 2017. Sutton VR. Inborn errors of metabolism: Epidemiology, pathogenesis and clinical features. https://www.uptodate.com/home. Accessed April 11, 2017. Brown AY. Allscripts EPSi. Mayo Clinic, Rochester, Minn. April 11, 2017. Lanpher BC (expert opinion). Mayo Clinic, Rochester, Minn. May 16, 2017. Related Products & Services Book: Mayo Clinic Family Health Book, 5th Edition Newsletter: Mayo Clinic Health Letter — Digital Edition Show more products and services from Mayo Clinic Inherited metabolic disordersSymptoms & causesDoctors & departmentsCare at Mayo Clinic Advertisement Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. Advertising & Sponsorship Policy Opportunities Ad Choices Mayo Clinic Press Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. Mayo Clinic on Incontinence - Mayo Clinic PressMayo Clinic on IncontinenceNEW – Future Care - Mayo Clinic PressNEW – Future CareMayo Clinic on Hearing and Balance - Mayo Clinic PressMayo Clinic on Hearing and BalanceFREE Mayo Clinic Diet Assessment - Mayo Clinic PressFREE Mayo Clinic Diet AssessmentMayo Clinic Health Letter - FREE book - Mayo Clinic PressMayo Clinic Health Letter - FREE book CON-20303979 Patient Care & Health Information Diseases & Conditions Inherited metabolic disorders