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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

00:23:41

Metabolic Minds 2025

JIMD Podcasts ·

2025/06/20

A special episode of the podcast as we visit the presentation day for the Metbionet Metabolic Minds leadership programme to hear about a plan to safeguard the future of specialist biochemistry services in the UK. Dr Rachel Carling explains the programme and then we hear from three of the course candidates, Dr Alana Burns, Annabel Wong and Freya Hassall about their projects on LSD testing, troubleshooting MS/MS and handling measurement uncertainty.

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00:35:46

IMD Research Round-Up: Redox metabolism

JIMD Podcasts ·

2025/06/17

Dr Luciana Hannibal, Research Group Leader / Head of Translational Metabolomics at the Centre for Integrative Biological Signalling Studies in Freiburg, and Dr Julien Park, a Physician-scientist at the Children's University Hospital Münster, are Rodrigo and Silvia's latest guests, providing a thorough overview of disorders of Redox Metabolism. Authors opinions are their own and do not represent their institutions. Papers discussed include: Targeted Metabolic Profiling of Methionine Cycle

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00:14:42

ECHS1 deficiency and valine restriction

JIMD Podcasts ·

2025/06/10

Dr Travis Johnson and Dr Sarah Mele join the podcast to explain why flies make great models for Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) and how their work is shedding light on different treatment modalities.Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency Sarah Mele, et al https://doi.org/10.1002/jimd.12840

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00:05:21

Metabolic mysteries: A child with episodic seizures...

JIMD Podcasts ·

2025/06/03

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.Read the article: https://doi.org/10.1002/cns3.20098 Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

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00:26:35

Managing Metabolic Emergencies - Intoxication type...

JIMD Podcasts ·

2025/05/27

Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis. Emergency Management of Intoxication-Type Inherited Metabolic Disorders J. Dexter Tarr, Andrew A. M. Morris https://doi.org/10.1002/jimd.70007

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00:22:50

IEMs in Adult Metabolic Centres: 10 Years Later

JIMD Podcasts ·

2025/05/20

Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group Michel Tchan, et al https://doi.org/10.1002/jimd.70005

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00:34:17

IMD Research Round-Up: Methylmalonic Aciduria

JIMD Podcasts ·

2025/05/13

Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria. Authors opinions are their own and do not represent their institutions. Papers discussed include: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase

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00:08:38

Shortcast: Sleep quality in children with hepatic...

JIMD Podcasts ·

2025/05/06

Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding. Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study Lucas Agnoletto, et al https://doi.org/10.1002/jmd2.12462

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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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00:22:40

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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00:25:34

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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260 results

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