PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings

Karen Anjema, Margreet van Rijn, Paul H. Verkerk, Johannes G. M. Burgerhof, Rebecca Heiner-Fokkema, Francjan J. van Spronsen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

22 Citations (Scopus)
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UNLABELLED: In phenylketonuria, knowledge about the relation between behavior and plasma phenylalanine is scarce. The aim of this study was to determine whether high phenylalanine is associated with disturbed behavior noticed by the patient and or close environment (parents or partners). 48 early treated PKU patients (median age 8.5, range 0-35 years) participated (median phenylalanine concentration in total sample 277 (range 89-1171) μmol/l; and in patients <12 years 238 (range 89-521) μmol/l). After sending blood samples, patients or close environment were interviewed with a standardized questionnaire whether they noticed hyperactivity, annoying behavior, mood swings and introvert or extravert behavior. The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration.

RESULTS: Patients reported less deviant behavior compared to close environment. Mood swings were positively associated with phenylalanine concentrations in the total group (P=0.039) and patients <12 years (P=0.042). The relationships between temporary high phenylalanine concentrations and hyperactivity, annoying behavior, introvert and extravert behavior were not statistically significant.

CONCLUSION: there is a positive association between phenylalanine concentrations and mood swings.

Original languageEnglish
Pages (from-to)231-234
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - Nov-2011


  • Phenylketonuria
  • PKU
  • Phenylalanine
  • Behavior
  • Mood swings
  • Mood
  • DIET

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