Psychiatric symptoms in adults with phenylketonuria

Deborah A. Bilder*, Barbara K. Burton, Hilary Coon, Lauren Leviton, James Ashworth, Bridget D. Lundy, Hazel Vespa, Amanda V. Bakian, Nicola Longo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


Background: The objective of this study was to identify psychiatric symptom patterns reported by individuals with phenylketonuria (PKU) in the outpatient clinic setting. Methods: Brief Symptom Inventory (BSI) results, phenylalanine (phe) levels, and demographic information were collected through a retrospective chart review on 64 participants in the study, "A Diversified Approach for PKU Treatment" (ADAPT). Results: The number of BSI scores meeting clinical threshold was significantly elevated for all global indexes and 6 out of 7 symptom subscales in patients with PKU. Recent and mean phe levels were correlated with age at the time of screening (R2=0.10, R2=0.10, respectively; p<0.05). Psychoticism and the Positive Symptom Distress Index (PSDI) scores were associated with metabolic control. Conclusions: The results of this study demonstrate a positive correlation between phe levels and psychiatric symptom severity in individuals with PKU.

Original languageEnglish (US)
Pages (from-to)155-160
Number of pages6
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Mar 2013


  • Assessment
  • Chronic illness
  • Phenylketonuria
  • Psychiatric
  • Psychosis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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