JIMD Podcasts
JIMD Podcasts hosts audio content from the Journal of Inherited Metabolic Disease, including the main JIMD podcast, the JIMD Shortcast, and additional series like Metabolic Mysteries and Footprints in IMD. The podcasts cover topics related to inherited metabolic diseases, featuring discussions with researchers, clinicians, and patients. It serves as an educational and informative resource for those interested in this medical specialty.
Episodes
The Adult PKU brain: from phenylalanine exposure to brain aging
Raphaela Muri and Roman Trepp join the JIMD Podcast to explore what happens to the adult brain in phenylketonuria. We discuss the effects of phenylalanine exposure on brain structure, what MRI studies reveal about potentially reversible changes, how these findings relate to cognition, and whether the latest evidence really suggests altered brain ageing in early-treated PKU.
Papers discussed and r
Research Round-Up: Sterols and Bile Acids
Research Round-Up: Sterols and Bile Acids by Journal of Inherited Metabolic Disease
Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism
Júlio César Rocha, Anne Daly and Anita MacDonald discuss how nutritional management can move beyond metabolic control towards better lifelong health. From protein substitutes and point-of-care monitoring to new therapies and AI, what might the future look like?
From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism
Júlio César Rocha,
Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions
Sarah Firman explores how dietary management can rapidly reduce phytanic acid levels in adult Refsum disease. This case series shows why adequate energy and carbohydrate intake, and avoiding weight loss and catabolism, matter alongside phytanic acid restriction.
Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions
Sarah J. Firman, et al
https:/
Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening
Are inherited metabolic disorders more common, and less predictable, than we previously thought?
Large-scale genomic studies are identifying adults with disease-associated variants who have escaped diagnosis, sometimes despite lifelong symptoms. At the same time, expanding genomic newborn screening risks identifying children who may remain well for decades or never develop clinically significant
IMD Research Round-Up: Phenylketonuria
Phenylketonuria (PKU) was one of the first inherited metabolic disorders to be recognised, but there is still plenty to discover. Silvia Radenkovic and Rodrigo Starosta are joined by Dr Cary Harding and Dr Wendy Smith to discuss evolving treatments, updated management guidelines and where PKU research is heading next.
The views and opinions expressed in this podcast are those of the speakers and
Rapamycin and Pharmacogenomics in Niemann-Pick C
A study of rapamycin in Niemann-Pick C raises an important question: what if the success of a treatment depends on a patient's wider genetic background? Dr Andrés Klein discusses pharmacogenomics, modifier genes and why precision medicine may need to go far beyond making the diagnosis.
A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C
Benjamín Szenfeld, et al
https://
Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
In this JIMD Shortcast, first author Arty Selvanathan discusses their study exploring how clinical outcomes relate to biochemical findings in cobalamin C (cblC) disease. What can biochemical markers really tell us about disease severity, and where do their limitations lie?
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C
Feeding the Microbiome: Rethinking Protein and Propionate in MMA
How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact of metronidazole on biochemical control in MMA.
Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prosp
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
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 ha
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 homo
Revisiting D-Bifunctional Protein Deficiency
A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with Dr Unai Díaz-Moreno and Dr Spyros Batzios about expanding phenotypes, genotype–phenotype correlations, and the growing role of early genetic diagnosis
Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities
Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years.
Read the paper: https://doi.org/10.1002/jmd2.70079
The Grey Zone in ABCD1 Variant Classification
Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal data may help refine risk stratification and reduce uncertainty in newborn screening.
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants
Metabolic Mysteries: A 57-year-old man with vomiting and worsening confusion
Too Much of a Good Thing - A 57-year-old man presents with rapidly progressive confusion, but the diagnosis isn’t where most adult physicians would look.
Follow the step-by-step clinical reasoning with Dr Mark Wijnen and see if you can solve it.
Read the paper: https://www.nejm.org/doi/full/10.1056/NEJMcps2510060
Nizubaglustat in GM2 Gangliosidosis
In this episode, Kyle Landskroner and Jagdeep S. Walia talk about their paper on nizubaglustat in a mouse model of GM2 gangliosidosis. They explore how this brain-penetrant dual GCS/NLGase inhibitor improved survival, motor function, and neuroinflammatory markers in Sandhoff disease mice, and what that could mean for future therapies in GM2 disease.
Therapeutic Effects of Nizubaglustat in a Mouse
Metabolic Mysteries: Recurrent abdominal pain, “FMF” and attacks around menstruation
Dr Tanyel Zubarioglu discusses the case of a young woman with years of severe abdominal pain, neurological symptoms, anxiety, and repeated hospital visits, initially thought to represent familial Mediterranean fever.
In this episode, we explore how a simple urine test during an acute attack changed everything, and why some metabolic diagnoses remain hidden in plain sight.
Read the paper here: ht
Tyrosine Hydroxylase Deficiency: Consensus guidelines
In this episode, Mariya Sigatullina Bondarenko, Thomas Opladen and Ivana Badnjarevic discuss the first international consensus guideline for tyrosine hydroxylase deficiency. They explore diagnosis, treatment, the move away from rigid subtype labels, and why patient experience matters in shaping better care.
PROMs link 👉 https://www.proms-ntd.org
Consensus Guideline for the Diagnosis and Treatmen
Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy discusses antenatal and neonatal management in carbonic anhydrase VA deficiency, based on a case series of two affected siblings managed from birth without decompensation.
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, et al
https://doi.org/10.1002/jmd2.70076
D-Glyceric aciduria: is GLYCTK really mitochondrial?
A rare disorder, a surprisingly basic biological question, and a paper that revisits what GLYCTK actually does. Jörn Oliver Sass joins the podcast to discuss D-glyceric aciduria, mitochondrial localization of D-glycerate kinase, and why getting the fundamentals right still matters.
Human D-Glycerate Kinase, Encoded by GLYCTK and Deficient in D-Glyceric Aciduria, Is a Mitochondrial Enzyme
Anne Kor
Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features
Dr Rory J. Tinker discusses diagnostic delay in mitochondrial disease, showing that most delays occur before clinical suspicion, despite canonical features being documented years earlier. The study highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches.
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical
mRNA therapies in liver Inherited Metabolic Diseases
mRNA therapy is emerging as a serious therapeutic platform for liver inherited metabolic diseases. In this episode, James Nurse speaks with Sonam Gurung and Julien Baruteau about their JIMD paper exploring how mRNA can be used for protein replacement, how lipid nanoparticles help target the liver, and where this approach may complement gene therapy, transplantation and standard care. A clear look
Shortcast: Epilepsy Phenotype and EEG Finding of RHADS in Succinate Dehydrogenase Deficiency
Dr Aaron B. Bowen explores epilepsy and EEG features in succinate dehydrogenase (complex II) deficiency, focusing on refractory epilepsy and the presence of RHADS, an EEG pattern more commonly associated with POLG-related disease, and what this means for diagnosis and differential thinking in mitochondrial disorders.
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superi
Beyond Triheptanoin: Elamipretide and Cardiolipin Remodelling in TFP Deficiency
We talk with Eduardo Vieira Neto about elamipretide in mitochondrial trifunctional protein deficiency and the emerging role of cardiolipin remodelling beyond classic fatty-acid oxidation. Could this offer an add-on approach for complications that triheptanoin doesn’t fully address?
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibrobl
Shortcast: Treatable Neonatal MoCD Type A: Rapid Demise Despite Rapid Biochemical Diagnosis
Dr Molly Crenshaw shares a powerful neonatal case of treatable molybdenum cofactor deficiency, where rapid biochemical diagnosis preceded molecular confirmation—but the infant deteriorated before disease-altering therapy could be started. This Shortcast highlights the critical value of urgent biochemical testing, evolving therapies, and the narrowing window for intervention in severe neonatal meta
Personalized metabolic modeling in Methylmalonic Aciduria
A systems-level exploration of methylmalonic aciduria using personalized genome-scale metabolic models. Featuring Almut Heinken, Vito Zanotelli, and Jean-Louis Guéant, discussing fibroblast transcriptomics, TCA cycle anaplerosis, heme biosynthesis flux, and the promise of multi-omics-guided precision medicine.
Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Me
Shortcast: Holocarboxylase Synthetase Deficiency: Second Case Report With Neonatal Cholestasis
In this Shortcast, Sophie Manoy summarises a newly reported case of holocarboxylase synthetase deficiency presenting with neonatal cholestatic liver disease. This is only the second such case described and highlights a possible genotype–phenotype correlation that broadens the recognised clinical spectrum of this rare but treatable disorder.
Holocarboxylase Synthetase Deficiency: A Second Case Rep
Vitamin and Cofactor Prescribing in Primary Mitochondrial Disease
Supplement prescribing in primary mitochondrial disease is almost universal, yet highly individualised, stepwise, and non-uniform across regions and phenotypes, with real potential for tissue and pill-burden harm. This podcast features Dr Julia Neugebauer and Professor Shamima Rahman exploring findings of a recent MetabERN survey looking at what informs when clinicians start, monitor, and sometim
Shortcast: Fulminant Metabolic Crisis in GSDIa: Persistent Lactic Acidosis Despite Hypo Correction
In this Shortcast, Dr Herodes Guzman discusses a striking case series of patients with GSDIa who developed fulminant metabolic crisis with persistent lactic acidosis despite correction of hypoglycaemia, raising concern for secondary mitochondrial dysfunction. He explores how these observations challenge conventional management and suggest a future role for mitochondrial-directed surveillance and t
Palliative care in inherited metabolic disease: an underutilised but essential service
Only around 18% of inherited metabolic diseases have disease-specific treatments, yet palliative care remains strikingly underused. In this episode, Anja Lee and Trine Tangeraas discuss a pan-European survey exploring access, barriers, and how earlier integration of palliative care can transform support for people living with IMDs.
Palliative Care for Children and Adults With Inherited Metabolic
Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs
Merve Yoldaş Çelik reviews pediatric cell trafficking disorders, a genetically diverse group that can mimic mitochondrial, lysosomal, and glycosylation disease. Using a 14-patient case series (including two novel variants), she highlights shared multisystem patterns and practical gene-specific clues to support a mechanism-based diagnostic approach.
A Multisystem Perspective of Pediatric Cell Traf
Manganese transporter disorders: diagnosis and treatment
In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry F
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
Dr Jeremy Clark unpacks why leukodystrophy caused by biallelic HMBS variants does not respond to liver transplantation or hepatically targeted therapies, pointing instead to CNS-driven porphyrin toxicity and a need for entirely new management approaches.
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy du
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
Join us for a rare conversation with Professors Jean-Marie Saudubray and Manuel Schiff as they reflect on six decades of progress in inherited metabolic diseases, from the earliest chromatograms to the dawn of genomic medicine. This episode explores the discoveries, collaborations, and human stories that shaped the field and continue to guide its future.
A Brief History of Inherited Metabolic Dis
Continuous Glucose Monitoring in hepatic GSDs
In this episode of the JIMD Podcast, Terry G. J. Derks, Alessandro Rossi, Sarah C. Grünert and Yunkoo Kang talk about the evolving role of continuous glucose monitoring (CGM) in liver glycogen storage diseases. The conversation spans international consensus on CGM use and an exciting deep-learning approach to predicting hypoglycaemia, pointing towards more personalised and preventive care for peop
Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS
A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight.
Read the article: https://doi.org/10.1002/ajmg.a.64275
Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials
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:
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to impro
Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis
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:/
IMD Research Round-Up: Mitochondrial disease
The Research Round-Up returns! Hosts Silvia Radenkovic and Rodrigo Starosta are joined by Dr Hilary Vernon and Dr Austin Larson for a deep dive into the latest discoveries in mitochondrial disease.
Together they explore how new biomarkers like FGF21 and GDF15 are reshaping diagnosis, how multi-omics approaches are accelerating precision care, and what large-scale data from gnomAD to stem-cell mod
First in human gene editing: a new era for IMD therapies
Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style:
⸻
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 th
Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue
Dr Samuel Mackenzie discusses the perplexing presentation of a 61-year-old man with rhabdomyolysis and a prolonged QT interval. Further exploration reveals a lifetime of episodic fatigue with illnesses.
https://doi.org/10.1016/j.ymgmr.2025.101241
Geriatric IMD: Diagnosing inherited metabolic disorders in older adults
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 Old
IMD Research Round-Up: Untargeted metabolomics
With Rodrigo off caring for sick children, James Nurse joins Silvia Radenkovic to speak with Dr Judith Jans and Dr Devin Oglesbee about the emerging field of untargeted metabolomics.
Authors’ opinions are their own and do not represent their institutions.
Referenced papers include:
Miller MJ, et al
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider
Pharmacological chaperones in OTC deficiency
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 Chap
Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland
Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland by Journal of Inherited Metabolic Disease
Penetrance, expressivity, and outcomes in classic galactosemia
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 challenge
IMD Research Round-Up: Lysosomal Storage Disorders
Silvia and Rodrigo are joined by Dr Ray Wang, Director of the multidisciplinary Foundation of Caring Lysosomal Storage Disorder Program at the Children's Hospital of Orange County. Silvia asks Dr Wang and Rodrigo (who also happens to be a researcher in this field) about cutting-edge advances in LSD research: from base editing in Pompe disease and patient-specific in vivo gene editing, to new bioma
Adenosine Kinase
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
Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari
The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease.
Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084
Find IMDs associated with psychiatric presentations at: https://www.iembase.org/gamuts/store/docs/Movement_disorders_up
Metabolic mysteries: Incidental adrenal calcifications in a neonate
A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery.
Read the full report here: https://doi.org/10.1136/bcr-2025-265278
The treatment landscape in CDG
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 orga
IMD Research Round-Up: Newborn Screening
In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta to explore the evolving landscape of newborn scree
ARS1 Deficiencies
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 Effect
Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD
Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder.
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder
Marya S. Sabir, et al
https://doi.org/10.1002/jmd2.70029
Diagnostic delay in Metachromatic Leukodystrophy
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
IMD Research Round-Up: Glycogen Storage Disorders
In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storage Disorders.
Authors opinions are their own an
Future therapies in galactosemia
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 pota
Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay
Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?
https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122
Speech and Language in Batten disease
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/
Metabolic Minds 2025
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, troubles
IMD Research Round-Up: Redox metabolism
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 represen
ECHS1 deficiency and valine restriction
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
Metabolic mysteries: A child with episodic seizures and multiple diagnoses
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
Managing Metabolic Emergencies - Intoxication type disorders
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.
IEMs in Adult Metabolic Centres: 10 Years Later
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
IMD Research Round-Up: Methylmalonic Aciduria
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.
Paper
Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study
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
NAXD deficiency
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 met
Imaging readiness in the gene therapy era
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
IMD Research Round-Up: Congenital Disorders of Glycosylation
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 dolicho
Exploring the disease burden in Arginase 1 deficiency
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
Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
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
Citrulline: beyond the urea cycle
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
Metabolic mysteries: Hypoglycemia? Don't forget the urine
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: New weakness, poor balance and paresthesia at 55 years of age
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#
Transition & executive function in MSUD
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
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing
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
CBS Deficiency in the E-HOD Registry
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. Ba
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