JIMD Podcasts

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#

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

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

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

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

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

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

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

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 multinational observational study

François Feillet, et al

https://doi.org/10.1002/jimd.12796

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