Advertise on podcast: JIMD Podcasts

Can hydrotherapy improve quality of life for people with Hunter syndrome (MPS II)? In this JIMD Reports Shortcast, Andy Oldham, specialist metabolic physiotherapist at Salford Royal Hospital, presents findings from a pilot study exploring the impact of hydrotherapy on pain, mobility and health-related quality of life. Andy discusses the potential of hydrotherapy to complement enzyme replacement therapy and address some of the everyday challenges of living with MPS II. The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study Andrew Oldham, et al https://doi.org/10.1002/jmd2.70114 On behalf of the MPS Society

An initial diagnosis offered some answers for a child with developmental delay, seizures and progressive spinal curvature. But several features remained unexplained. Dr Karla Cifuentes-Uribe follows an unexpected clue from a routine blood test, revealing why a diagnosis should not always mark the end of the investigation. Read the paper: https://doi.org/10.1002/jmd2.70117

Where a reaction happens may matter as much as the reaction itself. Manon Jeandel joins James Nurse to discuss evidence that methionine synthase is active in the nucleus and interacts with MATα2 and DNMT3B. We explore the connections between one-carbon metabolism, DNA methylation and cellular compartmentalisation, and the questions these findings raise for inherited metabolic disease. Methionine Synthase Interacts With the Methionine Adenosyl-Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus Manon Jeandel, et al https://doi.org/10.1002/jimd.70211

Dr Lívia Ferreira Sobrinho and Dr Ida Schwartz share new insights into GLUT1 deficiency syndrome from a Brazilian cohort of 40 patients. They explore its varied clinical presentations, 15 previously unreported SLC2A1 variants, and the implications for early diagnosis, ketogenic dietary therapy and genetic counselling for families. Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients Lívia Maria Ferreira Sobrinho, et al https://doi.org/10.1002/jmd2.70113

How do you manage gestational diabetes in a condition that predisposes to hypoglycaemia? Raashda A. Sulaiman discusses three successful pregnancies in women with fructose-1,6-bisphosphatase deficiency, exploring the balance between high and low blood glucose, the risk of lactic acidosis, and the importance of coordinated care through pregnancy, delivery and beyond. Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre Experience Raashda A. Sulaiman, et al https://doi.org/10.1002/jmd2.70116

Citrin deficiency challenges familiar assumptions about urea cycle disorders, from its changing clinical presentations to its distinctive dietary and emergency management. James Nurse speaks with Johannes Häberle, Saikat Santra and Barbara Yu of the Citrin Foundation, with contributions from Jun Kido, to explore diagnosis and care across the lifespan, differences between populations, and the evidence behind current treatments. The discussion also questions the misleading idea of a ‘silent’ phase. Interviews with adults living with citrin deficiency reveal symptoms and effects on daily life that can escape routine clinical assessment. We consider what these experiences mean for recognising disease burden, measuring meaningful treatment outcomes and putting patients at the centre of research, before looking ahead to better biomarkers, earlier diagnosis and future therapies. The therapeutic landscape of citrin deficiency Toni Vuković, et al https://doi.org/10.1002/jimd.12768 Citrin deficiency—The East-side story Johannes Häberle https://doi.org/10.1002/jimd.12772 Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition Jun Kido, et al https://doi.org/10.1002/jimd.12722 Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study Yurika Asami, et al https://doi.org/10.1016/j.ymgme.2026.110141

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