JIMD Podcasts

Mar 05 2025 200 ep. 16 mins 36
JIMD Podcasts artwork

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.

  Science
RSS feed Share
Copy RSS


Subscribe on Podcast Addict


Metabolic Mysteries: Hypoglycemia? Don't forget the urine

Mar 05 2025 6 mins  
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

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

Feb 18 2025 3 mins  
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/jmd2.12

CBS Deficiency in the E-HOD Registry

Feb 16 2025 15 mins  
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 Dion

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

Jan 27 2025 22 mins  
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

Velmanase alfa for alpha-mannosidosis

Jan 27 2025 25 mins  
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

An update on autophagy disorders

Jan 01 2025 49 mins  
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

Models in Leigh Syndrome

Dec 26 2024 41 mins  
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 h

KAMPER: Kuvan (BH4) in phenylketonuria

Dec 20 2024 25 mins  
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 Maternal Paediatric European Registry

Dietary management in GSD type 3a

Dec 04 2024 19 mins  
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

Footprints of IMD: Psychiatric presentations... with Gabriella Horvath

Dec 02 2024 13 mins  
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.2020.02.007 Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf