Stephen J. Schueler, M.D.

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PKU Treatment

Treatment for phenylketonuria includes a special diet, tyrosine supplements, biopterin cofactor therapy, sapropterin, and amino acid supplements.

Specific treatment for phenylketonuria includes:

  • Phenylketonuria diet:
    • Tyrosine supplements
    • Phenylalanine-free diet
    • Aspartame-free diet
    • Phenylalanine-free formula for infants
  • Large neutral amino acids can be added to the diet:
    • PhenylAde
    • PreKunil
  • Biopterin:
    • Cofactor therapy for phenylketonuria
  • Sapropterin (Kuvan):
    • A medication that helps the body activate the enzyme needed to control blood levels of phenylalanine.

PKU Specialist

Physicians from the following specialties evaluate and treat phenylketonuria:

Continue to PKU Home Care

Last Updated: Dec 22, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed PKU 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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