A collection of short podcasts featuring papers from the journal JIMD Reports as explained by their authors.

JIMD Shortcast

A collection of short case reports intended to take you through an evolving patient presentation, allowing you to consider the differentials as you go. Based on published case reports, these stories are intended to provide useful insights into rare disease presentations.

Metabolic mysteries

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

A monthly podcast series based on the Footprints of Inherited Metabolic Disease articles published in MGM. This series references the IEMbase, found at http://iembase.org/.

New episodes coming on the first of every month.

Footprints of inherited metabolic disease

Silvia & Rodrigo's IMD Research round-up

Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan
Jun Kido, et al
https://doi.org/10.1002/jimd.12384

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, et al
https://doi.org/10.1002/jimd.12403

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, et al
https://doi.org/10.1002/jimd.12100

Why everyone needs to know about Urea Cycle Disorders

Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomol but they may end up forming just part of the puzzle being built to manage this condition.

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment
Eugen Mengel, et al
https://doi.org/10.1002/jimd.12428

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C. Patterson, et al
https://doi.org/10.1002/jimd.12245

Assembling the treatment puzzle in Niemann Pick C

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?"

Genomic newborn screening: Are we entering a new era of screening?
Ute Spiekerkoetter, et al
https://doi.org/10.1002/jimd.12650

Genomic newborn screening: are we entering a new era of screening?

Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine. 

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism
N. N. Stolwijk, et al
https://doi.org/10.1002/jimd.12677

Food or medicine? Nutritional therapies in IMD

Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition.

Nucleotide metabolism, leukodystrophies, and CNS pathology
Francesco Gavazzi, et al
https://doi.org/10.1002/jimd.12721

Aicardi-Goutières syndrome

Nenad Blau hosts Professor David Cassiman as he explains when to consider a metabolic differential in pediatric and adult liver disease. 

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2019.04.002

Find liver disorders associated with IMDS at: http://iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf

Footprints of IMD: Metabolic Liver Disease... with David Cassiman

Eva Morava discusses the creation of the IEMbase with Nenad Blau before the pair welcome Gabriella Horvath to discuss metabolic mimics of cerebral palsy in the first episode of the footprints series. 

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2021.03.008

Find all the metabolic mimics of CP at http://iembase.org/gamuts/store/docs/Metabolic_mimics_of_cerebral_palsy.pdf

Footprints of IMD: the IEMbase and Cerebral Palsy... with Gabriella Horvath

Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology. 

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690

Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf

Footprints of IMD: Metabolic Epilepsies... with Phillip Pearl

Professor Corrado Angelini joins Eva Morava to discuss the footprints of metabolic myopathies, why they are so common and when they should be suspected. 

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2022.09.004

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf

Footprints of IMD: Metabolic myopathies... with Corrado Angelini

Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately.

Disorders of fatty acid homeostasis
Frédéric M. Vaz, et al 
https://doi.org/10.1002/jimd.12734

Fatty acid homeostasis

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. 

Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency
Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner
https://doi.org/10.1002/jmd2.12453

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

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

RNA based therapies in Urea Cycle Disorders

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

Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS

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. 

Authors opinions are their own and do not represent their institutions.

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 oligosaccharide translocation across the ER membrane. 
Chen et al

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG. 
Hirata et al

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. 
Morales-Romero et al

N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. 
Garapati et al

In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. 
Shirakura et al 

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. 
Budhraja et al

D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). 
Starosta et al

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes. 
Baerenfaenger et al

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic et al

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam et al

IMD Research Round-Up: Congenital Disorders of Glycosylation

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

Dietary management in GSD type 3a

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

Models in Leigh Syndrome

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

An update on autophagy disorders

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

Velmanase alfa for alpha-mannosidosis

Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes. 

Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment
Andrew 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

CBS Deficiency in the E-HOD Registry

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

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

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 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

Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

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 deficiency
Forny et al

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Head et al

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli et al

Prime editing for functional repair in patient-derived disease models
Schene et al

Mutation-specific reporter for optimization and enrichment of prime editing
Schene et al

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli et al

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.
Molema et al

IMD Research Round-Up: Methylmalonic Aciduria

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

Metabolic mysteries: Hypoglycemia? Don't forget the urine

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#

Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age

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

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

Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)

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


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

Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study

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

Metabolic mysteries: A child with episodic seizures and multiple diagnoses

Dr Emma Vardy, a Consultant Geriatrician from Salford, UK, explains the findings of a recent JIMD review looking at the impact of phenylketonuria in adulthood. With those who have benefitted from early treatment now approaching their fifth and sixth decades, PKU cannot just be seen as a disease of childhood and more work is needed to look into the long term impact of the condition.

Phenylketonuria, co‐morbidity, and ageing: A review
Emma R.L.C. Vardy, Anita MacDonald, Suzanne Ford, Denise L. Hofman

https://doi.org/10.1002/jimd.12186

PKU And Ageing

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.

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