2025/12/09 by Júlio César Rocha, Anne Daly, Anita MacDonald · 1 voice
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Metabolism and Genetic Disorders #Muscle metabolism and nutrition
paper · pdf · doi:10.1002/jimd.70123
openalex publication_date 2025/12/09 · openalex created_date 2025/12/11 · openalex updated_date 2026/07/28
Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the 'real world' or development in other areas of medicine. It is essential that research and advancements in nutrition therapy proceed to the next level in order to improve long-term outcomes and the quality of life for patients. Future nutrition innovation should be fuelled by potential advancements in technology, such as precision fermentation, predictive analytics, artificial intelligence and personalized therapies determined by genetic profile. There is a need to re-examine the nutritional composition and delivery of formulations used in IEPM. New pharmaceutical treatments are expected to enhance natural protein intake, lead to sustained healthy dietary patterns and ease diet-related management. However, their administration requires careful patient re-education and monitoring to ensure the non-adoption of inappropriate eating habits associated with excess weight gain and increased risk of metabolic syndrome. Generally, careful longitudinal assessment is the most indicative measure of nutritional adequacy in all IEPM and this is central to monitoring the impact of any dietary innovation. In the future, for some of the amino disorders such as phenylketonuria, point of care monitoring devices are expected to revolutionise the way we monitor blood amino acid levels. However, all new technologies come with risk and safety issues so careful research and assessment prior to implementation in patient care is necessary.