Protein status of people with phenylketonuria: a scoping review protocol

Abstract

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.

Protein status in phenylketonuria: A scoping review

“…This scoping review was undertaken in accordance with the fivestage framework outlined by Arksey and O'Malley [23], and is reported in accordance with the PRISMA Extension for Scoping Reviews checklist [24]. A full peer-reviewed protocol is available [25].…”

“…The Joanna Briggs Institute population, concept, context (PCC) strategy was used to develop the inclusion and exclusion criteria [25]. Studies were considered for inclusion if they included participants with PKU, and all age categories and study designs were considered (Population).…”

“…Following the removal of duplicate records, two independent reviewers (SF, MOK) applied the pre-defined eligibility criteria and independently assessed eligible titles and abstracts. In accordance with the published protocol [25], studies were excluded if they reported body weight, height, growth parameters (height, growth rate and head circumference), body mass index, fat mass (FM), or bone mineral density, with no other measurements of protein status. Full texts of eligible articles were retrieved and independently assessed by the same reviewers (SF, MOK).…”

“…This scoping review was undertaken in accordance with the published protocol [25], with the only deviation being redefining the age categories to include adolescents. Limited studies had a primary focus on protein status outcomes, and therefore the majority of findings were extracted from studies where protein status measurements formed part of a wider nutritional status assessment or were reported as secondary findings.…”

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

“…4) The approximate ratio of PKU in Caucasians is 1:10,000, and early diagnosis prevents serious and irreversible neurological sequelae. 1,5) Metin girmek iç in buraya tıklayın veya dokunun. The highest global rates belong to Europe and certain Middle Eastern nations.…”