The nutritional and metabolic characteristics of adult phenylketonuria (PKU) patients in the UK with varying dietary adherence is unknown. In other countries, nutritional and metabolic abnormalities have been reported in nonadherent patients compared to adherent counterparts. A pooled analysis of primary baseline data from two UK multi-centre studies was therefore performed to establish whether this is true from a UK perspective. Adult PKU patients who had provided 3-day food records and amino acid blood samples were included and grouped according to dietary adherence (adherent; n = 16 vs. nonadherent; n = 14). Nonadherent patients consumed greater amounts of natural protein compared to adherent patients (61.6 ± 30.7 vs. 18.3 ± 7.7 g/day; q < 0.001). In contrast, the contribution of protein substitutes to total protein intake was lower in nonadherent compared to adherent patients (3.9 ± 9.2 g/day vs. 58.6 ± 10.2 g/day; q < 0.001). Intakes of iron, zinc, vitamin D3, magnesium, calcium, selenium, iodine, vitamin C, vitamin A and copper were significantly lower in nonadherent compared to adherent patients and were below UK Reference Nutrient Intakes. Similarly, intakes of thiamin, riboflavin, niacin, vitamin B6 and phosphorus were significantly lower in nonadherent compared to adherent patients but met the UK Reference Nutrient Intakes. Phenylalanine concentrations in nonadherent patients were significantly higher than adherent patients (861 ± 348 vs. 464 ± 196 µmol/L; q = 0.040) and fell outside of European treatment target ranges. This study shows the nutritional and metabolic consequences of deviation from phenylalanine restriction and intake of PKU protein substitutes in nonadherent adult PKU patients. Collectively, these data further underlie the importance of life-long adherence to the PKU diet.

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IntroductionPhenylketonuria (PKU) is a disorder of protein metabolism resulting in an accumulation of phenylalanine in the body. Dietary management consists of altering the sources of ingested protein to limit phenylalanine intake. Current dietary protein guidelines for PKU are based on limited scientific evidence, thus it remains unclear whether current practice leads to optimal protein status in people with PKU. To date, no attempt has been made to systematically evaluate the protein status of people with PKU, using a combination of validated anthropometric, biochemical and functional measurement tools. Furthermore, factors known to influence protein status in the general population warrant consideration when determining protein status in individuals with PKU, alongside factors unique to PKU such as the type of protein substitute consumed. Understanding the impact of these variables on protein status is crucial to developing a personalised approach to protein recommendations for optimising health and functional outcomes in people with PKU. Therefore, the aim of this scoping review is to examine existing evidence regarding the protein status of people with PKU, and to investigate the nutritional and lifestyle variables that influence protein status.Methods and analysisThis review will be guided by Arksey and O’Malley’s framework, along with guidance from Levac et al, Pawliuk et al and the Joanna Briggs Institute. The following databases will be searched: MEDLINE (Ovid), Embase, CENTRAL, Web of Science and Scopus, alongside grey literature. Identified literature will be assessed by two independent reviewers for inclusion. Descriptive numerical analysis will be performed and a narrative summary will accompany the tabulated results describing how study findings relate to the review questions.Ethics and disseminationThis review protocol does not require ethical approval. Findings will be disseminated through peer-reviewed publication, presented at relevant conferences, and shared with a patient research advisory group to inform discussions on future research.

In phenylketonuria (PKU), variable dietary advice provided by health professionals and social media leads to uncertainty for patients/caregivers reliant on accurate, evidence based dietary information. Over four years, 112 consensus statements concerning the allocation of foods in a low phenylalanine diet for PKU were developed by the British Inherited Metabolic Disease Dietitians Group (BIMDG-DG) from 34 PKU treatment centres, utilising 10 rounds of Delphi consultation to gain a majority (≥75%) decision. A mean of 29 UK dietitians (range: 18–40) and 18 treatment centres (range: 13–23) contributed in each round. Statements encompassed all foods/food groups divided into four categories based on defined protein/phenylalanine content: (1) foods high in protein/phenylalanine (best avoided); (2) foods allowed without restriction including fruit/vegetables containing phenylalanine ≤75 mg/100 g and most foods containing protein ≤0.5 g/100 g; (3) foods that should be calculated/weighed as an exchange food if they contain protein exchange ingredients (categorized into foods with a protein content of: >0.1 g/100 g (milk/plant milks only), >0.5 g/100 g (bread/pasta/cereal/flours), >1 g/100 g (cook-in/table-top sauces/dressings), >1.5 g/100 g (soya sauces)); and (4) fruit/vegetables containing phenylalanine >75 mg/100 g allocated as part of the protein/phenylalanine exchange system. These statements have been endorsed and translated into practical dietary management advice by the medical advisory dietitians for the National Society for PKU (NSPKU).