JIMD Podcasts

In this episode, Mariya Sigatullina Bondarenko, Thomas Opladen and Ivana Badnjarevic discuss the first international consensus guideline for tyrosine hydroxylase deficiency. They explore diagnosis, treatment, the move away from rigid subtype labels, and why patient experience matters in shaping better care.

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Mariya Sigatullina Bondarenko, et al
https://doi.org/10.1002/jimd.70106

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 Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, et al
https://doi.org/10.1002/jmd2.70076

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 localization of D-glycerate kinase, and why getting the fundamentals right still matters.

Human D-Glycerate Kinase, Encoded by GLYCTK and Deficient in D-Glyceric Aciduria, Is a Mitochondrial Enzyme
Anne Korwitz-Reichelt, et al
https://doi.org/10.1002/jimd.70119

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

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 highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches.

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J. Tinker, et al
https://doi.org/10.1002/jmd2.70068