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Professor David Cassiman, Professor of Hepatology and Inherited Metabolic Diseases at KU Leuven, and Dr Martijn Brouwers, internist-endocrinologist and Head of the Division of Endocrinology and Metabolic Disease at Maastricht University Medical Center, join Rodrigo Starosta and Silvia Radenkovic to discuss recent advances in fructose metabolism. From the challenges of dietary treatment in hereditary fructose intolerance to ketohexokinase inhibition, endogenous fructose production and the links between rare metabolic disease and MASLD, this Research Round-Up explores how studying inborn errors of fructose metabolism can provide insights far beyond rare disease. Authors’ opinions are their own and do not represent their institutions. The papers discussed include: Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment. Janssen et al Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intolerance. Koene et al Rare monogenic causes of steatotic liver disease masquerading as MASLD. Brouwers & Cassiman Endogenous fructose production in patients and mice with aldolase B deficiency. Buziau et al KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword. Pinheiro et al Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Cortese et al

Dr Boel Ernerdahl presents her groups observations around the make up of adult patients with neurometabolic disorders at a single centre in Sweden. Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann https://doi.org/10.1002/jmd2.70115

One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions. In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where distinguishing citrin deficiency from citrullinaemia type I became critical as initial treatment was followed by rapidly worsening liver failure. Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) Hoi-Yin Chan, et al https://doi.org/10.1002/jmd2.70110

Remethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease. Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines, including when to measure total homocysteine, newborn screening and the move towards high-dose hydroxocobalamin. She also explains why shared treatment protocols are needed to strengthen the evidence behind future recommendations. First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders Giorgia Olivieri et al. https://doi.org/10.1002/jimd.70177

A young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative. In this Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing to finally crack the case. Can you solve it before she does? Read the paper: https://doi.org/10.1055/a-2903-9323

A 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture. In this Metabolic Mystery, Dr Steven Lang follows the clues to uncover a treatable metabolic diagnosis. Can you solve the case before he does? Read the paper: https://doi.org/10.1542/pir.2025-007029

Cytopenias and infections are familiar complications of branched-chain organic acidemias, but are they simply consequences of metabolic decompensation? Abdul Shakerdi and Jerry Vockley join the JIMD Podcast to explore evidence that persistent immune dysfunction and inflammation may be fundamental parts of the disease phenotype, with implications for clinical care, research and emerging therapies. Immune Dysregulation in Branched Chain Organic Acidemias Abdul L. Shakerdi, et al https://doi.org/10.1002/jimd.70203

In this JIMD Reports Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia. Hear how multidisciplinary management supported a favourable outcome for both mother and baby. Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia Eamon P. McCarron, et al https://doi.org/10.1002/jmd2.70109

Could some mitochondrial disorders also be treatable interferonopathies? In a new JIMD Reports Shortcast, Dan Brooks and Fernando Scaglia look at a fascinating case of PNPT1-related mitochondrial disease in which mitochondrial dysfunction was accompanied by activation of the type I interferon pathway. Treatment with the JAK inhibitor tofacitinib normalised the interferon signature and was associated with improvements in biochemical and clinical measures. As a single case it is necessarily preliminary, but it provides an intriguing example of how understanding the crosstalk between mitochondria and the immune system might open up new therapeutic approaches. JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk Dan Ross Brooks, et al https://doi.org/10.1002/jmd2.70096

In the fifth, and thankfully final, update from Helsinki, James and Silvia return to provide their inimitable take on the sessions from Thursday with a look ahead to Friday’s sessions. They find themselves looking well beyond the last day, as James speaks with Dr Ina Knerr about preparations for the SSIEM 2027 meeting in Dublin. James gets yet another geography lesson and we hear from a bumper helping of conference attendees finally keen to discuss their posters. So long Helsinki, it’s been wonderful.

James and Silvia return for the 4th episode of their increasingly confusing daily podcast from the SSIEM 2026 annual meeting in Helsinki. The flood gates have finally opened and we hear from multiple guest about their posters and presentations, and Dr Nazi Tabatadze caught up with James to give him a quick geography lesson and discuss IMD care in Georgia. You've just one more day to be part of the podcast so say hello or forever wonder about the life of fame and fortune that you let slip away.

Silvia and James reflect on the first full day of the SSIEM 2026 meeting and look ahead to day 2. They check in with Rodrigo to find out why he can't be Helsinki and welcome a number of contributors who encourage you to come and see their posters. Remember, there are now just two days left to be a part of the podcast no-one asked for... find them, before they find you.

Hosts Silvia Radenkovic and James Nurse return to introduce the first 'proper' day of the SSIEM 2026 meeting. In addition to highlighting some of the unsung highlights of Day 1 (lab proficiency testing anyone), Silvia makes her case as a mentor and James speaks with Dr Narmin Aslanzade and Dr Leman Alirzayeva about IMD services in Azerbaijan and the posters they're bringing to SSIEM 2026. As always, Silvia and James would love to hear from you so if you're at the meeting and want to shout about your poster, please get in touch.

The "podcast no one asked for" is back as hosts Silvia Radenkovic and James Nurse preview the 2026 SSIEM Annual Meeting, and they are joined by meeting chair Risto Lapatto to discuss what goes in to arranging an international IMD conference, the sessions he doesn't want to miss and why you have to try a sauna. We want to hear from you across the week so if you've got a poster in Helsinki please get in touch and we will find you!!

Raphaela Muri and Roman Trepp join the JIMD Podcast to explore what happens to the adult brain in phenylketonuria. We discuss the effects of phenylalanine exposure on brain structure, what MRI studies reveal about potentially reversible changes, how these findings relate to cognition, and whether the latest evidence really suggests altered brain ageing in early-treated PKU. Papers discussed and related work Brain Age in Adult Patients With Early-Treated Phenylketonuria Winiger et al. https://doi.org/10.1002/jimd.70158 Neural Correlates of Working Memory and Its Association With Metabolic Parameters in Early-Treated Adults With Phenylketonuria Abgottspon et al. https://doi.org/10.1016/j.nicl.2022.102974 Cortical Thickness and Its Relationship to Cognitive Performance and Metabolic Control in Adults With Phenylketonuria Muri et al. https://doi.org/10.1002/jimd.12561 Do Early-Treated Adults With Phenylketonuria Sense High Phenylalanine Levels? Hauri et al. https://doi.org/10.1002/jmd2.12446 Cerebral Blood Flow and White Matter Alterations in Adults With Phenylketonuria Steiner et al. https://doi.org/10.1016/j.nicl.2023.103550 Reversible White Matter Changes Following a 4-Week High Phenylalanine Exposure in Adults With Phenylketonuria Muri et al. https://doi.org/10.1002/jimd.12823 Transient Brain Structure Changes After High Phenylalanine Exposure in Adults With Phenylketonuria Muri et al. https://doi.org/10.1093/brain/awae139 Cognition After a 4-Week High Phenylalanine Intake in Adults With Phenylketonuria – A Randomized Controlled Trial Trepp et al. https://doi.org/10.1016/j.ajcnut.2023.11.007 Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria? Vallesi et al. https://doi.org/10.1002/jmd2.70108