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    Inborn errors of metabolism

    Metabolism - inborn errors of

    Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.

    A food product that is not broken down into energy can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause developmental delay if not controlled.

    Thereis alarge number of inborn errors of metabolism.

    A few examples are:

    Fructose intolerance
    Galactosemia
    Maple sugar urine disease (MSUD)
    Phenylketonuria (PKU)

    Newborn screening tests can identify some of these disorders

    Health care providers and registered dietitians can help create a diet appropriate for the specific disease.

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    • Galactosemia

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      • Galactosemia

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      A Closer Look

        Tests for Inborn errors of metabolism

        Review Date: 6/9/2013

        Reviewed By: Sameer Patel, MD, Assistant Professor of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

        The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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        St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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