Exploring exercise behaviours in Phenylketonuria patients

Blog Article

Woman lifting weights

This research will aim to explore physical activity and exercise behaviours in patients with the rare inherited metabolic disorder Phenylketonuria (PKU). Individuals with PKU have a reduced ability to convert the amino acid phenylalanine (Phe) to tyrosine (Tyr) due a deficiency of phenylalanine hydroxylase (PAH) enzyme. An impairment in PAH causes toxic levels of blood Phe build up in the body if undiagnosed, resulting in physiological, neurological, and intellectual disabilities. This research will aim to provide interventions to assist with exercise and nutrition, including exercise recovery and optimisation of performance.

The following acronym will be directing the aims of the 3-year project.

  • Support patients, caregivers, clinicians, and industry with nutrition and exercise guidance to enhance health and performance outcomes
  • Produce groundbreaking research to scientifically investigate the impacts of exercise and nutrition in PKU
  • Organise a “whole systems approach” to co-design, implement and evaluate nutrition and exercise interventions
  • Raise awareness of the role of nutrition and exercise and the potential positive and negative effects on the management of PKU
  • Tailor approaches based on the findings of the research to assist with care provision across all stakeholders

What impact will the project have?

Currently, there is very minimal to no experimental research into PKU and exercise with no physical activity, exercise, or nutrition guidelines for patients or athletes with PKU globally. Therefore, the end goals of this PhD research are to explore interventions to assist with exercise and nutrition, including recovery from exercise, support systems, and optimising performance. We will focus on key stakeholder relationships and encourage alignment, to make sure that all parties are using consistent and evidence-based recommendations at all levels of care to communicate with the PKU community. Ultimately, being the recognised organisation for physical activity, exercise and nutrition in PKU – an unmet need in patients with PKU globally. Results of this study will be communicated through relevant professional conferences, presentations, and relevant resources for patients, caregivers, industry and clinicians - with a hope for future guidelines around physical activity, exercise, and nutrition in PKU to be published in the European guidelines for PKU management.

Project team

  • Annabelle Skidmore
  • Dr Lewis Gough
  • Dr. Adam Herbert, Professor Kiara Lewis
  • Professor Anita MacDonald OBE
  • Funders – Vitaflo Ltd

For more information on the research project please contact lewis.gough@bcu.ac.uk