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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:

• 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.

References

Craigen WJ. Approach to inborn errors of metabolism. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 189.

Shchelochkov OA, Venditti CP. An approach to inborn errors of metabolism. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 104.

Review Date: 4/8/2025

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.