Dr Anita MacDonald 

Dr Anita MacDonald OBE is Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children’s Hospital, and an Honorary Professor in Dietetics at Plymouth University, UK. Although she semi-retired 9 years ago, she is even more involved in PKU work, concentrating solely on this group as well as doing some voluntary work for the National Society for PKU (NSPKU). 

Her involvement in inherited metabolic disorders (IMD) has spanned over 5 decades. Dr MacDonald obtained her PhD in phenylketonuria (PKU) in 1999. She has directly cared for over 500 patients with PKU. She has always been actively involved in PKU research, supervises PhD students, Master students and lectures worldwide on PKU.  She has over 500 publications – many are research publications on PKU. She is a member of the European PKU Guidelines group, is a member of ESPKU Scientific Advisory Committee, and member of the UK NSPKU Medical Advisory Panel and Scientific Advisory Committee. 

Maggie Lilburn Lecture: Shaping the Future of PKU: A Lifetime Advancing Science, Care, and Community

Phenylketonuria (PKU) is one of the most extensively studied inherited metabolic disorders, yet its management continues to evolve as new evidence emerges. Over several decades, the PKU Research Team at Birmingham Children’s Hospital has generated a substantial and methodologically diverse body of work that has shaped contemporary practice across dietary treatment, metabolic monitoring, therapeutic optimisation, and international guideline development. This programme includes observational cohorts, randomised controlled trials, longitudinal dietary analyses, and multicentre collaborations undertaken with academic and clinical partners.

A major focus of work has centred on feed development and the systematic evaluation of dietary treatment. Longitudinal studies have defined patterns of protein intake, growth trajectories, and the nutritional profile of low‑protein foods, providing the empirical basis for current dietary recommendations. Extensive investigation of protein substitutes has deepened understanding of their metabolic, nutritional, and functional characteristics, including clinical evaluation of casein glycomacropeptide, prolonged‑release amino acids, and emerging formulations. This evidence has informed rigorous, evidence‑based approaches to product selection and supported safe, effective transitions across the life course.

Work on metabolic monitoring has documented patient and professional experiences with home blood sampling and demonstrated the acceptability and clinical utility of point‑of‑care testing. This evidence will help support its integration into routine practice as a strategy to enhance accessibility and patient engagement. 

Therapeutic research has advanced the evidence base for adjunct drug therapy, with participation in sapropterin and sepiapterin clinical trials and extension studies generating important data on biochemical responsiveness, metabolic stability, and the degree to which pharmacological treatment can increase dietary phenylalanine tolerance.

Additional studies have examined feeding development, adherence, telemedicine, service delivery, lived experience and identifying behavioural determinants of metabolic control. These findings have informed service redesign. The team has also contributed to international consensus building, including contributions to the 2017 and 2025 European PKU Guidelines, which synthesise multidisciplinary evidence into harmonised recommendations adopted across Europe. 

Collectively, this research programme has advanced precision nutrition, improved therapeutic strategies, strengthened monitoring approaches, and supported the development of unified global standards for PKU management.