JIMD Podcasts

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