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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…
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…
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…
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…
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…
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…
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…
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…
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,…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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JIMD Podcasts has published 267 episodes since June 2020, covering topics in Science.
JIMD Podcasts is currently highly active with new episodes weekly. Average episode length is 17m.
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