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Inborn errors of metabolism

Definition

Inborn errors of metabolism are rare genetic (inherited) 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 range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled.

There are many different types of inborn errors of metabolism.

A few of them are:

Newborn screening tests can identify some of these disorders.

Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.

Alternative Names

Metabolism - inborn errors of

Gallery

Galactosemia
An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.
Phenylketonuria test
Blood is routinely drawn from newborn infants for testing. Blood is obtained by a heel stick and collected on a special blotter paper. Routine testing includes phenylketonuria and blood type. Many hospitals include other tests such as thyroid function, hemoglobin S (sickle cell disease), or may test for other blood disorders (hemoglobinopathies). Testing can be tailored to the local population, taking into account race and ethnic background in determining what routine testing should be done.

References

Bodamer OA. Approach to inborn errors of metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 194.

Shchelochkov OA, Venditti CP. An approach to inborn errors of metabolism. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 102.

Last reviewed April 24, 2023 by Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team..

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