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Phenylketonuria

Underlying Cause

Phenylketonuria Underlying Cause

Phenylketonuria is an inherited disorder. The body is unable to produce a chemical that normally breaks down phenylalanine. Without this key enzyme, phenylalanine will accumulate in the blood, become toxic to the brain, and cause the symptoms of phenylketonuria.

Continue to Phenylketonuria Genetics

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Last Updated: Jun 19, 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.