JIMD Podcasts

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 metabolic disease.

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis
Molly M. Crenshaw, et al
First published: 11 January 2026 https://doi.org/10.1002/jmd2.70061

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 Report With Neonatal Cholestatic Liver Disease
Sophie Manoy, et al
https://doi.org/10.1002/jmd2.70051

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 Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency
Aaron B. Bowen, et al
https://doi.org/10.1002/jmd2.70072

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 sometimes stop enzymes and co-factors, and how global registry and natural-history data may guide the field forward.

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey
Julia Neugebauer, et al
https://doi.org/10.1002/jimd.12805

And the editorial discussed:
Should the "mitochondrial cocktail" be a default option? An opinion
Peter W Stacpoole, Stephen D Cederbaum
https://doi.org/10.1016/j.ymgme.2025.109264

We talk with Eduardo Vieira Neto about elamipretide in mitochondrial trifunctional protein deficiency and the emerging role of cardiolipin remodeling 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 Fibroblasts
Eduardo Vieira Neto, et al
https://doi.org/10.1002/jimd.70132