Inborn errors of metabolism
Show Alternative Names
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
Fructose intolerance
Hereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that natu...
Read Article Now Book Mark Article - Galactosemia
Galactosemia
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.
ImageRead Article Now Book Mark Article - Maple syrup urine disease (MSUD)
Maple syrup urine disease
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this conditio...
Read Article Now Book Mark Article - Phenylketonuria (PKU)
Phenylketonuria
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine....
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Newborn screening tests can identify some of these disorders.
Newborn screening tests
Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms ...
Read Article Now Book Mark ArticleRegistered dietitians and other health care providers can help create a diet that is right for each specific disorder.
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.
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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