The JIMD Podcast, a fortnightly podcast from the Journal of Inherited Metabolic Disease. Features interviews with journal authors discussing recent publications.

Journal of Inherited Metabolic Disease podcast

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

Citrulline: beyond the urea cycle

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


Transition & executive function in MSUD

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 cost 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 their caregivers: A multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1002/jmd2.12456

Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1080/13696998.2024.2400856

Exploring the disease burden in Arginase 1 deficiency

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

Imaging readiness in the gene therapy era

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

IEMs in Adult Metabolic Centres: 10 Years Later

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 al
https://doi.org/10.1002/jimd.12541

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses 
Nicole J Van Bergen, et al
https://doi.org/10.1093/brain/awy310

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Nicole J Van Bergen, et al
https://doi.org/10.3390/ijms24043582

NAXD deficiency

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

Managing Metabolic Emergencies - Intoxication type disorders

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

ECHS1 deficiency and valine restriction

Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care. 

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie D. Morison, et al
https://doi.org/10.1002/jimd.12838

Speech and Language in Batten disease

In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC) as a therapeutic strategy. Yes, purple sweet potatoes. Who knew?

We’re joined by familiar voices Estela Rubio-Gozalbo and Kent Lai, alongside first-time guests Synneva HagenLillevik and Bijina Balakrishnan, for a conversation that blends bold scientific possibility with practical insights on the challenges of developing disease-modifying therapies for galactosemia.

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder
M. Estela Rubio-Gozalbo, et al
https://doi.org/10.1002/jimd.70013

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia
Olivia Bellagamba, et al
https://doi.org/10.1002/jimd.70002

Future therapies in galactosemia

Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough.

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach
Ali Mohajer, et al
https://doi.org/10.1002/jimd.70049

Diagnostic delay in Metachromatic Leukodystrophy

In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders.

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects
Eva M. M. Hoytema van Konijnenburg, et al
https://doi.org/10.1002/jimd.70017

05/08/2025

ARS1 Deficiencies

In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-a-time approaches. From patient-derived brain organoids to AI-powered outcome assessments and the promise of basket trials, this conversation is a sweeping tour through the innovations shaping the future of CDG care.

The Therapeutic Future for Congenital Disorders of Glycosylation
I. J. J. Muffels, T. Kozicz, E. O. Perlstein, E. Morava
https://doi.org/10.1002/jimd.70011

The treatment landscape in CDG

What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation?

In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their recent review in the Journal of Inherited Metabolic Disease, which reframes ADK not just as a metabolic regulator, but as a potential epigenetic drug target.

From seizure suppression to cancer immunology, ADK sits at a crossroads, and could be a future key to metabolic and epigenetic medicine.

Adenosine Kinase: An Epigenetic Modulator and Drug Target
Uchenna Peter-Okaka, Detlev Boison
https://doi.org/10.1002/jimd.70033

Adenosine Kinase

In this episode we discuss new insights into the variability of long-term outcomes in classic galactosemia. Joining me are Nikki Smith, Olivia Garrett, and Judy Fridovich-Keil, who together explore how complications in cognitive, motor, and speech domains emerge, cluster, and vary in severity across patients. Their study highlights both patterns and unanswered questions, illustrating the challenges families face and the importance of refining prognostic tools.

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia
Nicole H. Smith et al.
https://doi.org/10.1002/jimd.70020

Penetrance, expressivity, and outcomes in classic galactosemia

Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones,  a novel approach that strengthens enzyme stability in patient-derived liver models and offers new hope for female OTC carriers.

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models
Adhuresa Ramosaj, et al
https://doi.org/10.1002/jimd.70043

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
Adhuresa Ramosaj et al
https://doi.org/10.1016/j.ymgmr.2023.101007

Pharmacological chaperones in OTC deficiency

Inherited metabolic diseases aren’t just for the young.

James Nurse talks with François Maillot and Ida Schwartz about their systematic review revealing how IMDs can first be diagnosed well into older age. From Fabry disease to alkaptonuria, they discuss diagnostic delays, missed clues, and why it’s time to think about geriatric metabolic medicine.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Maria-Rita Moio, et al
https://doi.org/10.1002/jimd.70038

Geriatric IMD: Diagnosing inherited metabolic disorders in older adults

Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style:

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It’s one of the most talked-about breakthroughs of 2025, a first-in-human demonstration of in vivo gene editing to treat an inherited metabolic disease.

In this episode, Kiran Musunuru and Rebecca Ahrens-Nicklas are joined by Julien Baruteau to unpack what this means for the field. They explore the science behind gene editing, the importance of ethical design, and the emotional weight of stopping therapy once enzyme function is restored.

The conversation bridges the NEJM landmark paper (Musunuru et al., 2025) and the accompanying JIMD editorial (Rahman & Baruteau, 2025), reflecting on what this moment tells us about the future of metabolic medicine and how ready we are for it.

First in Human Gene Editing for an Inherited Metabolic Disease
Shamima Rahman, Julien Baruteau
https://doi.org/10.1002/jimd.70056

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
Kiran Musunuru, et al
https://www.nejm.org/doi/10.1056/NEJMoa2504747

First in human gene editing: a new era for IMD therapies

A nationwide CTX study, a critical treatment window, and a conversation with the lead author. Dr Tanyel Zübarioğlu joins the JIMD Podcast to unpack the long-term impact of CDCA therapy and why timing matters more than ever.

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Tanyel Zubarioglu, et al
https://doi.org/10.1002/jimd.70069

Editorial Comment to Regulatory News
Carla E. M. Hollak, Natalja Bouwhuis
https://doi.org/10.1002/jimd.70071

Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

Krista Casazza talks about validating key biomarkers in Niemann-Pick type C and why they are essential for future clinical trials and regulatory approval. The discussion focuses on emerging candidates such as 24-hydroxycholesterol, neurofilament light chain, and calbindin-D, alongside the urgent need for data harmonisation and collaboration across the NPC community.

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment
Krista Casazza, et al
https://doi.org/10.1002/jimd.70075

Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials

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.