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.
Shortcast: Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency
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
6 Oct 2026
IMD Research Round-Up: HFI & fructose metabolism
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
Who has been a guest on JIMD Podcasts
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Dr JP Stevens
Lottie Morrison
Dr Alana Burns
Annabel Wong
Freya Hassall
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Apple Podcasts (US)
5.0 / 5
13 ratings
Spotify
5.0 / 5
18 ratings
Podcast Authority Score: 61 / 100
A composite of feed quality, social presence, YouTube performance and engagement. Read the methodology.
Quality
86
Social presence
0
YouTube
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Engagement
90
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