Abstract
BackgroundRecently 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.ResultsWe 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).ConclusionsPKU 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.
Highlights
Published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients
The data evidencing the precise extent of such a delay was not available, the mean prevalence of mental health symptoms in patients born before heelprick testing was 33.3%, compared with 16.3% in those born after the advent of heelprick testing
Forty-nine of 202 patients had a 2-year average Phe ≤ 600 μmol/L i.e. 24.6% of non-pregnant patients were adhering to ESPKU European Guidelines [2]. 9/17 pregnant patients had a two-year average Phe level < 360 μmol/L during pregnancy and preconception
Summary
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. Close blood-spot monitoring of Phe levels, maintained throughout development, has enabled the attainment of near-potential IQ [6]. Adherence to such dietary stringency is difficult for many, and alternative therapies e.g. tetrahydrobiopterin (BH4) or Kuvan®, co-factor for PAH, are limited to those with residual enzyme activity, demonstrated responsiveness, and access [6,7,8,9]. It is essential to determine the impact of high Phe levels on mental health diagnoses, as there may be a considerable unidentified burden of mental health disease in this population
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