Abstract
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 language | English (US) |
|---|---|
| Pages (from-to) | 155-160 |
| Number of pages | 6 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 108 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 2013 |
Funding
The ADAPT study, data collection and editorial assistance was funded by an unrestricted grant from BioMarin Pharmaceutical Inc . Editorial assistance was provided by Judy Wiles and Nicolette Blase of Facet Communications Inc. Data collection assistance was provided by Symbiotix.
Keywords
- Assessment
- Chronic illness
- Phenylketonuria
- Psychiatric
- Psychosis
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology