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
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.