ABSTRACT
Background
Galactosaemia is an inherited metabolic disorder, characterised by the inability to metabolise galactose. Dietary management previously varied worldwide due to the lack of standardised guidelines. The International Clinical Guidelines (CPG) for management of classical galactosaemia were published in 2017. The aim of the current study was to explore dietitians’ perspectives and their use of the guidelines worldwide.
Methodology
An international cross-sectional online survey was administered from April to June 2021 to registered dietitians who were working or had worked with galactosaemia patients since the guidelines were published. The study was piloted and received ethical approval. Descriptive statistical analysis and thematic analysis were performed.
Results
A total of 39 dietitians from 17 countries participated. 51% of participants had > 10 years of experience working with patients with galactosaemia. 56.4% reported a change in their dietetic practice since the guidelines were published, namely relaxing the diet, and not restricting fruits and vegetable intake (46%). Most dietitians (76.9%) reported improved confidence because the guidelines support their clinical reasoning and existing dietary management approaches. Most dietitians (82%) suggested improvements for the CPG for classical galactosaemia.
Conclusions
The findings are considered the first to describe how dietitians view and use the guidelines. The CPG for galactosaemia appears to have positively influenced practice. Currently, implementation of the CPG could be improved by addressing the gaps in the existing evidence base and minimising other barriers e.g. patient-related barriers, institutional barriers and lack of resources. Patient-friendly resources are also necessary to provide accessible, comprehensive information regarding the management of galactosaemia.
Journal of Human Nutrition and Dietetics, Volume 38, Issue 5, October 2025. Read More