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.

JIMD Podcasts
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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.
Language
🇺🇲
Publishing Since
6/23/2020
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Recent Episodes

June 16, 2026
Shortcast: Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB
In this Shortcast Dr Mark Wijnen presents two cases where Teriparatide was used to treat bone complications in MPD IVB but explains how temporally associated cardiac disease compels his groups to advise caution in its use. Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB Mark Wijnen, Evert F. S. van Velsen, J. Gert-Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers First published: 13 April 2026 https://doi.org/10.1002/jmd2.70088

June 9, 2026
High Glycine, Different Diagnoses
A raised glycine level can point to a surprisingly broad range of conditions. In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework for Clinicians. Together they explore why not all hyperglycinaemia is nonketotic hyperglycinaemia (NKH), how our understanding of glycine disorders has evolved, and how clinicians can navigate the differential diagnosis of elevated glycine in practice. From classic and attenuated NKH to lipoate deficiency syndromes, pyridoxine-related disorders, and important phenocopies such as valproate exposure, this episode provides a practical framework for approaching high glycine levels. The History and Nosology of the Glycine Disorders: A Framework for Clinicians Arthavan Selvanathan, et al https://doi.org/10.1002/jimd.70138

June 2, 2026
IMD Research Round-Up: Homocystinuria
Season 2 of the JIMD Research Round-Up begins with a deep dive into classical homocystinuria (CBS deficiency). Hosts Silvia Radenkovic and Rodrigo Starosta are joined by two internationally recognised experts, Dr Andrew Morris (Royal Manchester Children's Hospital, UK) and Professor Kim Chapman (Children's Hospital Los Angeles, USA). In this episode, they explore: - The clinical spectrum of homocystinuria, from childhood presentations to adults diagnosed after thrombosis - Why the condition is still frequently missed or misdiagnosed - The overlap with Marfan syndrome and the unanswered questions surrounding disease mechanisms - The strengths and limitations of current newborn screening programmes - Dietary treatment, pyridoxine responsiveness, and the challenges faced by patients and families - Emerging therapies including enzyme substitution therapy, chaperone therapies, and ongoing clinical trials - Why there is genuine optimism for the future of homocystinuria care and research A fascinating discussion covering six decades of progress in homocystinuria and the next generation of treatments that may transform care.
272 total episodes available
Recent guests on JIMD Podcasts
Guests from recent episodes — sign up to see every guest that has ever appeared on this show.
Dr JP Stevens
Guest
Lottie Morrison
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Dr Alana Burns
Guest
Annabel Wong
Guest
Freya Hassall
Guest
Dr Luciana Hannibal
Guest
Dr Julien Park
Guest
Dr Dexter Tarr
Guest
François Feillet
Guest
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Frequently asked questions
Have a different question and can't find the answer you're looking for? Reach out to our support team by sending us an email and we'll get back to you as soon as we can.
- What is JIMD Podcasts?
- How often does this podcast release new episodes?
This podcast updates daily.
- Where can I listen to this podcast?
This podcast is available on 10 platforms including Apple Podcasts, Spotify, and more. You can also use the RSS feed directly.
- Does this podcast accept guests?
Yes, this podcast regularly features guests.
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