In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC) as a therapeutic strategy. Yes, purple sweet potatoes. Who knew?
We’re joined by familiar voices Estela Rubio-Gozalbo and Kent Lai, alongside first-time guests Synneva HagenLillevik and Bijina Balakrishnan, for a conversation that blends bold scientific possibility with practical insights on the challenges of developing disease-modifying therapies for galactosemia.
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder
M. Estela Rubio-Gozalbo, et al
https://doi.org/10.1002/jimd.70013
Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia
Olivia Bellagamba, et al
https://doi.org/10.1002/jimd.70002
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Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay
Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?
https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122
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Speech and Language in Batten disease
Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie D. Morison, et al
https://doi.org/10.1002/jimd.12838
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Metabolic Minds 2025
A special episode of the podcast as we visit the presentation day for the Metbionet Metabolic Minds leadership programme to hear about a plan to safeguard the future of specialist biochemistry services in the UK. Dr Rachel Carling explains the programme and then we hear from three of the course candidates, Dr Alana Burns, Annabel Wong and Freya Hassall about their projects on LSD testing, troubleshooting MS/MS and handling measurement uncertainty.
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IMD Research Round-Up: Redox metabolism
Dr Luciana Hannibal, Research Group Leader / Head of Translational Metabolomics at the Centre for Integrative Biological Signalling Studies in Freiburg, and Dr Julien Park, a Physician-scientist at the Children's University Hospital Münster, are Rodrigo and Silvia's latest guests, providing a thorough overview of disorders of Redox Metabolism.
Authors opinions are their own and do not represent their institutions.
Papers discussed include:
Targeted Metabolic Profiling of Methionine Cycle Metabolites and Redox Thiol Pools in Mammalian Plasma, Cells and Urine
Behringer et al
Treatment with 2-phospho-L-ascorbic acid mitigates biochemical phenotypes of heme oxygenase 1 deficiency
Berendes et al
Guidelines for measuring reactive oxygen species and oxidative damage in cells and in vivo
Murphy et al
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park et al
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype
Berendes et al
Redox signaling in inherited diseases of metabolism,
Current Opinion in Physiology
Jacobsen and Hannbal
Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor.
Myszkowska et al
JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.
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