Stephen J. Schueler, M.D.

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Phenylketonuria Underlying Cause

Phenylketonuria is an inherited disorder. The body is unable to produce an enzyme that normally breaks down phenylalanine, which is a naturally occurring amino acid. Amino acids are the building blocks for proteins. Without this key enzyme, phenylalanine will accumulate in the blood, become toxic to the brain, and cause the symptoms of phenylketonuria.

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Last Updated: Jul 7, 2009 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Phenylketonuria References
  1. Channon S, German E, Cassina C, Lee P. Executive functioning, memory, and learning in phenylketonuria. Neuropsychology. 2004 Oct;18(4):613-20. [15506828]
  2. Sullivan JE, Chang P. Review: emotional and behavioral functioning in phenylketonuria. J Pediatr Psychol. 1999 Jun;24(3):281-99. [10379143]
  3. 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. [10586002]
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