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Orphanet Journal of Rare Diseases

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Open Access 01-12-2021 | Mood Disorders | Research

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre

Authors: George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss, Gisela Wilcox

Published in: Orphanet Journal of Rare Diseases | Issue 1/2021

Abstract

Background

Recently published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients. This study aimed to identify whether PKU adult patients are at a higher risk of mental health diagnoses if their 2-year average Phe level is higher than the ESPKU European guidelines. Published studies identified by a literature review showed that related studies have been published in American and European PKU study populations but not in the United Kingdom (UK) study populations. Previous studies also involved a smaller number of participants due to this being a rare disease.

Results

We undertook a retrospective audit at a single large PKU centre in the UK. 244 adult PKU patients at the centre were included, 220 of which had a recorded Phe level. Approximately 75% of the patients in this study did not meet the ESPKU European guidelines for Phe control. A systematic search of the electronic patient record was undertaken looking for mental health diagnoses. Compared to two-year average Phe levels ≤ 600 μmol/L, PKU adult patients with two-year average Phe levels > 600 μmol/L were more likely to have diagnoses of low mood, depression, anxiety, or mood swings, but only low mood reached statistical significance (p < 0.05).

Conclusions

PKU patients with two-year average Phenylalanine levels greater than ESPKU guidelines may be at greater risk of mental health diagnoses and symptoms. Many of these adult PKU patients will be lost to follow-up, and therefore may be receiving treatment for mental health conditions in the community. Multicentre UK studies and international collaborations are required to overcome low participant numbers in the study of this rare disease.

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Title: Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
Authors: George Altman
Kamran Hussain
Diane Green
Boyd J. G. Strauss
Gisela Wilcox
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Mood Disorders
Phenylketonuria
Affective Disorder
Anxiety
Published in: Orphanet Journal of Rare Diseases / Issue 1/2021
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-021-02138-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre

Abstract

Background

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Results

Conclusions

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