A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

Barbara K. Burton*, Lauren Leviton, Hazel Vespa, Hilary Coon, Nicola Longo, Bridget D. Lundy, Maria Johnson, Andrew Angelino, Ada Hamosh, Deborah Bilder

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Objectives: Individuals with phenylketonuria (PKU) treated early and continuously are reported to have psychiatric and executive function impairments. The feasibility of screening for psychiatric distress and executive function impairment in individuals with PKU was tested in 3 separate clinics in North America. Methods: Individuals were offered screening for psychiatric distress using the Pediatric Symptom Checklist, the PSC-Youth Report or the Brief Symptom Inventory and executive function impairment using the Behavior Rating Inventory of Executive Function. Gender, age and blood phenylalanine (Phe) concentrations obtained most recently and during the 2. years prior to screening were assessed. Results: More than 90% of patients with PKU accepted the screening for psychiatric distress during their routine clinic visit. The screening took 15-20. min. 32% of patients screened positive for psychiatric distress and 19% for executive function impairment. More individuals >18. years screened positive for psychiatric distress while a similar number screened positive for executive function impairment across age groups. Lower blood Phe levels correlated with negative screening for psychiatric distress. Patients positive for psychiatric distress had higher (p=0.009) median and most recent blood Phe values (p=0.05). Discussion/conclusions: Routine screening for psychiatric distress of patients with phenylketonuria could be easily implemented in current clinic structures. High incidences of positive screens reinforce the need for regular psychiatric assessments of individuals with PKU. Identification and referral to local mental health providers might help to improve the standard of care for individuals with PKU.

Original languageEnglish (US)
Pages (from-to)8-12
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number1
StatePublished - Jan 2013


  • Executive function impairment
  • PKU
  • Phe levels
  • Phenylketonuria
  • Psychiatric distress

ASJC Scopus subject areas

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


Dive into the research topics of 'A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics'. Together they form a unique fingerprint.

Cite this