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PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

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.

science

All Episodes

00:32:57

NAXD deficiency

JIMD Podcasts ·

2025/04/29

Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency Nicole J. Van Bergen, et

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00:22:54

Imaging readiness in the gene therapy era

JIMD Podcasts ·

2025/04/22

Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness. Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment Asthik Biswas, et al https://doi.org/10.1002/jimd.12828

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00:39:58

IMD Research Round-Up: Congenital Disorders of...

JIMD Podcasts ·

2025/04/15

Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. The papers discussed include: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Wilson et al Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. Ng et al Rft1 catalyzes lipid-linked

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00:27:51

Exploring the disease burden in Arginase 1 deficiency

JIMD Podcasts ·

2025/04/11

It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal burden of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Reena Sharma et al https://doi.org/10.1002/jmd2.12450 Disease burden among patients with Arginase 1 deficiency and

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00:04:46

Shortcast: D,L-3-hydroxybutyrate in the treatment of...

JIMD Podcasts ·

2025/04/03

In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS.D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) Aya Amer, et al https://doi.org/10.1002/jmd2.12461

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00:26:29

Citrulline: beyond the urea cycle

JIMD Podcasts ·

2025/03/28

Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders Marshall Summar https://doi.org/10.1002/jimd.12810

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00:07:00

Metabolic Mysteries: New weakness, poor balance and...

JIMD Podcasts ·

2025/03/20

In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.64031#

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00:16:30

Transition & executive function in MSUD

JIMD Podcasts ·

2025/03/14

Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood. Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease Jessica I. Gold, et al https://doi.org/10.1002/jimd.12827

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00:06:11

Metabolic Mysteries: Hypoglycemia? Don't forget the...

JIMD Podcasts ·

2025/03/06

Dr Ashlee Stiles discusses the work-up of a 13-month-old girl with hypoglycaemia and discusses the need to balance prompt metabolic work-up with managing the acutely unwell patient in front of you. Critical sample collection is key and don't forget the urine. Read the report here: https://www.sciencedirect.com/science/article/pii/S2214426924000156?via%3Dihub

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00:03:05

Shortcast: TFP deficiency caused by a deep intronic...

JIMD Podcasts ·

2025/02/19

Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency.Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing Thomas Cassini, et al https://doi.org/10.1002/jmd2.12459

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00:15:58

CBS Deficiency in the E-HOD Registry

JIMD Podcasts ·

2025/01/28

Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological TreatmentAndrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium https://doi.org/10.1002/jimd.12844

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00:25:34

Velmanase alfa for alpha-mannosidosis

JIMD Podcasts ·

2025/01/28

Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis Nathalie Guffon, et al https://doi.org/10.1002/jimd.12799

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00:22:40

The Treatabolome: Don't miss the chance to treat!

JIMD Podcasts ·

2025/01/28

Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase. The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! Bibiche den Hollander, et al https://doi.org/10.1002/jimd.12835

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00:49:08

An update on autophagy disorders

JIMD Podcasts ·

2025/01/02

It seems everyone is talking about autophagy but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.An update on autophagy disorders Hormos Salimi Dafsari, et al https://doi.org/10.1002/jimd.12798

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00:41:32

Models in Leigh Syndrome

JIMD Podcasts ·

2024/12/27

Marie-Thérèse Henke, Alessandro Prigione, and Markus Schuelke get 2025 off to an informative start discussing why so many models exist for Leigh Syndrome, why we need them and how insights from disease models have led to Sildenafil being used in some patients. Disease models of Leigh syndrome: From yeast to organoids Marie-Thérèse Henke, Alessandro Prigione, Markus Schuelke https://doi.org/10.1002/jimd.12804

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00:25:38

KAMPER: Kuvan (BH4) in phenylketonuria

JIMD Podcasts ·

2024/12/20

Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency).Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study François Feillet, et al https://doi.org/10.1002/jimd.12796

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00:19:08

Dietary management in GSD type 3a

JIMD Podcasts ·

2024/12/05

Dr Sema Kalkan Uçar joins the podcast to discuss the merits of a high protein, high fat diet for the management of patients with Glycogen Storage Disease type 3a.Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance Sema Kalkan Uçar, et al https://doi.org/10.1002/jimd.12741

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00:13:34

Footprints of IMD: Psychiatric presentations... with...

JIMD Podcasts ·

2024/12/02

Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease.Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007 Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf

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00:08:09

Shortcast: Two successful pregnancies in patients...

JIMD Podcasts ·

2024/11/29

In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome.Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome Subadra Wanninayake, et al https://doi.org/10.1002/jmd2.12435

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00:15:03

RNA based therapies in Urea Cycle Disorders

JIMD Podcasts ·

2024/11/21

In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders. Exploring RNA therapeutics for urea cycle disorders Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat https://doi.org/10.1002/jimd.12807

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