Journal of Inherited Metabolic Disease

, Volume 18, Issue 3, pp 347–353

Phenylketonuric patients decades after diet

  • R. O. Fisch
  • P. -N. Chang
  • S. Weisberg
  • P. Guldberg
  • F. Güttler
  • M. Y. Tsai


Nineteen early-treated phenylketonuric patients, whose diet was discontinued between 4.5 and 13 years of age, and who have been off the diet for 12–28 years, were reassessed in 1992–93. There was little change in mean IQ between end of diet and follow-up, less than one IQ point on the average, with no change for any individual exceeding 12 IQ points. Both prior and current IQ correlated slightly negatively with mean phenylalanine (Phe) concentration, and positively with parents' education. The phenylalanine level at follow-up was significantly lower on average by about 900 µmol/L. Five of the subjects (26%) have evidence of mental disease. However, the data suggest that the discontinuation of the diet did not cause intellectual deterioration. Nonetheless, the patients' intellect cannot be the only consideration for maintenance of diet. The occurrence of psychopathology among phenylketonuric patients and the possible unknown effects of toxic elevation of phenylalanine during their lifetime suggest the need to maintain the diet. The use of DNA for diagnostic and prognostic purposes might assist in decisions about dietary quality and duration, and in anticipation of psychopathology.


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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • R. O. Fisch
    • 1
  • P. -N. Chang
    • 2
  • S. Weisberg
    • 3
  • P. Guldberg
    • 4
  • F. Güttler
    • 4
  • M. Y. Tsai
    • 5
  1. 1.Department of PediatriesUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of PsychologyUniversity of MinnesotaMinneapolisUSA
  3. 3.Applied StatisticsUniversity of MinnesotaMinneapolisUSA
  4. 4.Department of BiochemistryJohn F. Kennedy InstituteGlostrupDenmark
  5. 5.Department of Laboratory MedicineUniversity of MinnesotaMinneapolisUSA
  6. 6.University of MinnesotaMinneapolisUSA

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