Inborn errors of metabolism

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.

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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.
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