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Inborn errors of metabolism

Metabolism - inborn errors of

 

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:

  • Fructose intolerance
  • Galactosemia
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)

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.

 

Open References

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.

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  • Galactosemia

    Galactosemia

    illustration

  • Newborn screening testing

    Newborn screening testing

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    • Galactosemia

      Galactosemia

      illustration

    • Newborn screening testing

      Newborn screening testing

      illustration

    A Closer Look

     

      Self Care

       

        Tests for Inborn errors of metabolism

         
           

          Review Date: 4/24/2023

          Reviewed 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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