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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:
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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...
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Galactosemia
Galactosemia
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.
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Maple sugar urine disease
(MSUD)
Maple sugar 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...
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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 ...
Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.
References
Bodamer OA. Approach to inborn errors of metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 205.
Rezvani I, Rezvani G. An approach to inborn errors of metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 78.
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Galactosemia - illustration
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.
Galactosemia
illustration
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Galactosemia - illustration
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.
Galactosemia
illustration
Review Date: 4/20/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
