FreeMD® Phenylketonuria: Definition

Phenylketonuria

Definition

Phenylketonuria Definition

Common names:

Phenylketonuria
PKU

A person with phenylketonuria has an inherited illness that prevents the body from breaking down a chemical called phenylalanine. Phenylalanine builds up in the bloodstream, and becomes toxic to the brain.

About 1 in 16,000 infants in the US is born with phenylketonuria.

Continue to Phenylketonuria Incidence

Related Topics:

Children's health
Feeding problems in infants
Genetic disease
Infant fussiness
More...

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Last Updated: Jan 2, 2008 References

Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD

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Phenylketonuria References:

Channon S, German E, Cassina C, Lee P. Executive functioning, memory, and learning in phenylketonuria. Neuropsychology. 2004 Oct;18(4):613-20.
Sullivan JE, Chang P. Review: emotional and behavioral functioning in phenylketonuria. J Pediatr Psychol. 1999 Jun;24(3):281-99.
Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics. 1999 Dec;104(6):e68.