Psychiatric symptoms in adults with phenylketonuria

BackgroundThe objective of this study was to identify psychiatric symptom patterns reported by individuals with phenylketonuria (PKU) in the outpatient clinic setting.MethodsBrief 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).ResultsThe 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.ConclusionsThe results of this study demonstrate a positive correlation between phe levels and psychiatric symptom severity in individuals with PKU.

► Adults with PKU are at increased risk for experiencing psychiatric symptoms.
► Recent and mean phenylalanine levels correlate with age at time of screening.
► Psychoticism and Positive Symptom Distress Index are associated with phe levels.