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Inborn errors of metabolism

Definition

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.

There is a large 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.

Alternative Names

Metabolism - inborn errors of


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. Call 911 for all medical emergencies. 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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