Health Encyclopedia

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.

See: Newborn screening tests

Alternative Names

Metabolism - inborn errors of

Side Effects

A food product that is not metabolized (broken down into energy) can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause mental retardation if not controlled. There are wide number of inborn errors of metabolism. This article offers a general overview.

Specific information is available on the following forms of inborn errors of metabolism:

Recommendations

Diet changes may control the disorder. The type and extent of the changes depends on the specific metabolic error. For example, persons with galactosemia should avoid milk and milk products, including yogurt, cheese, and ice cream. Galactose and lactose-free milk substitutes and foods should be used.

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

Review Date:10/19/2007
Reviewed By:Deirdre O’Reilly, MD, MPH, Neonatologist, Division of Newborn Medicine, Children’s Hospital Boston and Instructor in Pediatrics, Harvard Medical School, Boston, Massachusetts. Review Provided by VeriMed Healthcare Network.

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.

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.