Psychiatric symptoms in adults with phenylketonuria

Bilder, D. A.; Burton, B. K.; Coon, H.; Leviton, L.; Ashworth, J.; Lundy, B. D.; Vespa, H.; Bakian, A. V.; Longo, N.

Mol Genet Metab. 2013 Jan 24; 108(3):155-60


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 (R(2)=0.10, R(2)=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.

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