JIMD Podcasts

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 improved survival, motor function, and neuroinflammatory markers in Sandhoff disease mice, and what that could mean for future therapies in GM2 disease.

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis
Kyle Landskroner, Kshitiz Singh, Melissa Mitchell, Jagdeep S. Walia
https://doi.org/10.1002/jimd.70130

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 Mediterranean fever.

In this episode, we explore how a simple urine test during an acute attack changed everything, and why some metabolic diagnoses remain hidden in plain sight.

Read the paper here: https://link.springer.com/article/10.1186/s13023-026-04308-3

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.

PROMs link 👉 https://www.proms-ntd.org

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