Print OverviewInherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. Different gene changes cause different types of inherited metabolic disorders. These gene changes are most commonly passed down from both parents. But sometimes the gene change comes only from one parent, most often from the mother. These disorders also are called inborn errors of metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life. These include: Making energy. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them for later use. Making or getting rid of substances. Certain chemical processes make substances your body needs. Other chemical processes break down substances that your body no longer needs. When these processes don't work properly, a metabolic disorder occurs. It may be due to an enzyme that's too low or missing or to another problem. Inherited metabolic disorders fall into different groups. They're grouped by the substance affected and whether it builds up too much because it can't be broken down or it's too low or missing.Products & ServicesA Book: Mayo Clinic Family Health BookNewsletter: Mayo Clinic Health Letter — Digital EditionShow more products from Mayo Clinic SymptomsThere are hundreds of inherited metabolic disorders caused by different genes. Symptoms depend on the type of disorder and how severe it is. Examples of inherited metabolic disorders 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. When to see a doctorIf you have concerns about your child's growth and development or your own health, talk to your doctor or other healthcare professional. Request an appointment There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form. Get the latest health information from Mayo Clinic delivered to your inbox. Subscribe for free and receive your in-depth guide to digestive health, plus the latest on health innovations and news. You can unsubscribe at any time. Click here for an email preview. Email address ErrorEmail field is required ErrorInclude a valid email address Address 1 Subscribe Learn more about Mayo Clinic’s use of data. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Thank you for subscribing Your in-depth digestive health guide will be in your inbox shortly. You will also receive emails from Mayo Clinic on the latest health news, research, and care. If you don’t receive our email within 5 minutes, check your SPAM folder, then contact us at newsletters@mayoclinic.com. Sorry something went wrong with your subscription Please, try again in a couple of minutes Retry CausesInherited metabolic disorders are caused by changes in specific genes that affect metabolism. Different gene changes cause different types of inherited metabolic disorders. These gene changes are most commonly passed down from both parents. But sometimes the gene change comes only from one parent, most often from the mother. There are hundreds of inherited metabolic disorders caused by different genes. Risk factorsThe risk of an inherited metabolic disorder is higher if one or both parents have the gene change that can cause the condition. In some cases, future parents may decide to have carrier testing before pregnancy. This test can identify some gene changes in parents that may raise the risk that future children will have certain types of inherited metabolic disorders. By Mayo Clinic Staff Inherited metabolic disorders care at Mayo Clinic Request an appointment Diagnosis & treatment Jan. 12, 2024 Print Show references Kruszka P, et al. Inborn errors of metabolism: From preconception to adulthood. American Family Physician. 2019;99:25. Saudubray JM, et al. Inborn errors of metabolism overview: Pathophysiology, manifestations, evaluation, and management. Pediatric Clinics of North America. 2018; doi:10.1016/j.pcl.2017.11.002. Ferreira CR, et al. Inborn errors of metabolism. Handbook of Clinical Neurology. 2019; doi:10.1016/B978-0-444-64029-1.00022-9. Ferreira CR, et al. An international classification of inherited metabolic disorders (ICIMD). Journal of Inherited Metabolic Disease. 2021; doi:10.1002/jimd.12348. Goldman L, et al., eds. Approach to inborn errors of metabolism. In: Goldman-Cecil Medicine. 26th ed. Elsevier; 2020. https://www.clinicalkey.com. Accessed Feb. 13, 2023. Pichurin PN (expert opinion). Mayo Clinic. March 24, 2023. Allscripts EPSi. Mayo Clinic. 2022. Related Products & Services A Book: Mayo Clinic Family Health Book Newsletter: Mayo Clinic Health Letter — Digital Edition Show more products and services from Mayo Clinic Inherited metabolic disordersSymptoms&causesDiagnosis&treatmentDoctors&departmentsCare atMayoClinic Advertisement Mayo Clinic does not endorse companies or products. 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There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form. Get the latest health information from Mayo Clinic delivered to your inbox. Subscribe for free and receive your in-depth guide to digestive health, plus the latest on health innovations and news. You can unsubscribe at any time. Click here for an email preview. Email address ErrorEmail field is required ErrorInclude a valid email address Address 1 Subscribe Learn more about Mayo Clinic’s use of data. To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Thank you for subscribing Your in-depth digestive health guide will be in your inbox shortly. You will also receive emails from Mayo Clinic on the latest health news, research, and care. If you don’t receive our email within 5 minutes, check your SPAM folder, then contact us at newsletters@mayoclinic.com. Sorry something went wrong with your subscription Please, try again in a couple of minutes Retry