Best JIMD Podcasts (2025)

1
Metabolic mysteries: Incidental adrenal calcifications in a neonate 5:55

Play Pause

2d ago5:55

5:55

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…

1
The treatment landscape in CDG 31:13

9d ago31:13

31:13

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-…

1
IMD Research Round-Up: Newborn Screening 45:14

16d ago45:14

45:14

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 …

1
ARS1 Deficiencies 20:55

23d ago20:55

20:55

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 C…

1
Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD 4:22

1M ago4:22

4:22

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 DisorderMarya S. Sabir, et alhttps://doi.org/10.1002/jmd2.70029…

1
Diagnostic delay in Metachromatic Leukodystrophy 21:31

1M ago21:31

21:31

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…

1
IMD Research round-up: Glycogen Storage Disorders 32:51

1M ago32:51

32:51

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 Storag…

1
Future therapies in galactosemia 33:35

2M ago33:35

33:35

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)…

1
Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay 8:25

2M ago8:25

8:25

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.…

1
Speech and Language in Batten disease 23:34

2M ago23:34

23:34

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 D…

1
Metabolic Minds 2025 23:41

2M ago23:41

23:41

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 Has…

1
IMD Research Round-Up: Redox metabolism 35:46

2M ago35:46

35:46

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. Auth…

1
ECHS1 deficiency and valine restriction 14:42

3M ago14:42

14:42

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) DeficiencySarah Mele, et a…

1
Metabolic mysteries: A child with episodic seizures and multiple diagnoses 5:21

3M ago5:21

5:21

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/cns3.20098Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska,…

1
Managing Metabolic Emergencies - Intoxication type disorders 26:35

3M ago26:35

26:35

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 Int…

1
IEMs in Adult Metabolic Centres: 10 Years Later 22:50

3M ago22:50

22:50

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 t…

1
IMD Research Round-Up: Methylmalonic Aciduria 34:17

4M ago34:17

34:17

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 a…

1
Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study 8:38

4M ago8:38

8:38

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 studyLucas Agnoletto, …

1
NAXD deficiency 32:57

4M ago32:57

32:57

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.…

1
Imaging readiness in the gene therapy era 22:54

4M ago22:54

22:54

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 assessmentAsthik Biswas, et alhttps://doi.org/1…

1
IMD Research Round-Up: Congenital Disorders of Glycosylation 39:58

5M ago39:58

39:58

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 glycosyla…

1
Exploring the disease burden in Arginase 1 deficiency 27:51

5M ago27:51

27:51

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 yea…

1
Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) 5:12

5M ago5:12

5:12

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 alhttps://doi.org/10.1002/jmd2.12461By Journal of Inherited Metabolic Disease

1
Citrulline: beyond the urea cycle 26:29

5M ago26:29

26:29

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 disordersMarshall Summarhttps://doi.org/10.1002/jimd.12810…

1
Metabolic mysteries: Hypoglycemia? Don't forget the urine 6:11

5M ago6:11

6:11

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?…

1
Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age 7:00

5M ago7:00

7:00

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…

1
Transition & executive function in MSUD 16:30

6M ago16:30

16:30

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 diseaseJessica I. Gold, et alhttps://doi.org/10.1002/jimd.12827…

1
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing 3:05

6M ago3:05

3:05

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 splicingThomas Cassini, et alh…

1
CBS Deficiency in the E-HOD Registry 15:58

7M ago15:58

15:58

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 TreatmentAndrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, St…

1
The Treatabolome: Don't miss the chance to treat! 22:40

7M ago22:40

22:40

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 alhttps://doi.org/10.100…

1
Velmanase alfa for alpha-mannosidosis 25:34

7M ago25:34

25:34

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-mannosidosisNathalie Guffon, et alhttps://doi.org/10.1002/jimd.12799…

1
An update on autophagy disorders 49:08

8M ago49:08

49:08

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 dis…

1
Models in Leigh Syndrome 41:32

8M ago41:32

41:32

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 organoidsMarie-Thérèse Henke, Alessandro …

1
KAMPER: Kuvan (BH4) in phenylketonuria 25:38

8M ago25:38

25:38

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 Materna…

1
Dietary management in GSD type 3a 19:08

9M ago19:08

19:08

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 …

1
Footprints of IMD: Psychiatric presentations... with Gabriella Horvath 13:34

9M ago13:34

13:34

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.2020.02.007Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf…

1
Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS 8:09

9M ago8:09

8:09

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 syndromeSubadra Wanninayake, et alhttps://doi.org/10.1002/jmd2.12435…

1
RNA based therapies in Urea Cycle Disorders 15:03

9M ago15:03

15:03

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 disordersEva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviathttps://doi.org/10.1002/jimd.128…

1
Brain changes in infantile Pompe disease 21:50

10M ago21:50

21:50

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive …

1
Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency 6:40

10M ago6:40

6:40

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 deficiencyCallie Ferguson, Anita Madison, Ada Hamosh, Celide Koernerhttps://doi.org/10.1002/jmd2.12453…

1
Gene therapy for mitochondrial disorders 26:07

10M ago26:07

26:07

Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others. Gene therapy for mitochondrial disordersNandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahmanhttps://doi.org/10.1002/jimd.12699…

1
Adult outcomes in classic galactosemia 35:05

11M ago35:05

35:05

Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 92 adults.Health and well-being of maturing adults with classic galactosemiaOlivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Ann…

1
Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira 29:37

11M ago29:37

29:37

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.2020.12.290Find IMDs associated with epilepsies at: http://www…

1
Neuronopathic gaucher disease 25:15

11M ago25:15

25:15

Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments.Neuronopathic Gaucher disease: Rare in the West, common in the EastOzlem Goker-Alpan, Margarita M. Ivanovahttps://doi.org/10.1002/jimd.12749…

1
Chorioretinopathy In LCHADD 14:25

12M ago14:25

14:25

Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathyMelani…

1
Footprints of IMD: Metabolic myopathies... with Corrado Angelini 17:59

12M ago17:59

17:59

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.2022.09.004Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf…

1
Flies, plants and classic galactosemia 21:19

1y ago21:19

21:19

Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adul…

1
Shortcast: Do early-treated adults with phenylketonuria sense high phenylalanine levels? 3:53

1y ago3:53

3:53

Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels?Do early-treated adults with phenylketonuria sense high phenylalanine levels?Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepphttps://doi.org/10.1002/jmd2.12446By Journal of Inherited Metabolic Disease

1
Fatty acid homeostasis 18:09

1y ago18:09

18:09

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 homeostasisFrédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734By Journal of Inherited Metabolic Disease

1
Metabolic mysteries: Progressive neurological symptoms after a change in diet 6:30

1y ago6:30

6:30

Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427…