JIMD Podcasts

A study of rapamycin in Niemann-Pick C raises an important question: what if the success of a treatment depends on a patient's wider genetic background? Dr Andrés Klein discusses pharmacogenomics, modifier genes and why precision medicine may need to go far beyond making the diagnosis.

A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C
Benjamín Szenfeld, et al
https://doi.org/10.1002/jimd.70214

In this JIMD Shortcast, first author Arty Selvanathan discusses their study exploring how clinical outcomes relate to biochemical findings in cobalamin C (cblC) disease. What can biochemical markers really tell us about disease severity, and where do their limitations lie?

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
Arthavan Selvanathan, et al
https://doi.org/10.1002/jmd2.70091

How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact of metronidazole on biochemical control in MMA.

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study
Engin Köse, et al
https://doi.org/10.1002/jimd.70172

In this Shortcast Dr Mark Wijnen presents two cases where Teriparatide was used to treat bone complications in MPD IVB but explains how temporally associated cardiac disease compels his groups to advise caution in its use.

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB
Mark Wijnen, Evert F. S. van Velsen, J. Gert-Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers
First published: 13 April 2026 https://doi.org/10.1002/jmd2.70088

A raised glycine level can point to a surprisingly broad range of conditions.

In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework for Clinicians. Together they explore why not all hyperglycinaemia is nonketotic hyperglycinaemia (NKH), how our understanding of glycine disorders has evolved, and how clinicians can navigate the differential diagnosis of elevated glycine in practice.

From classic and attenuated NKH to lipoate deficiency syndromes, pyridoxine-related disorders, and important phenocopies such as valproate exposure, this episode provides a practical framework for approaching high glycine levels.

The History and Nosology of the Glycine Disorders: A Framework for Clinicians
Arthavan Selvanathan, et al
https://doi.org/10.1002/jimd.70138