JIMD Podcasts

A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with Dr Unai Díaz-Moreno and Dr Spyros Batzios about expanding phenotypes, genotype–phenotype correlations, and the growing role of early genetic diagnosis.

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series
U. Diaz-Moreno, et al
https://doi.org/10.1002/jimd.70118

Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years.

Read the paper: https://doi.org/10.1002/jmd2.70079

Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal data may help refine risk stratification and reduce uncertainty in newborn screening.

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy
Troy C. Lund, et al
https://doi.org/10.1002/jimd.70157

Too Much of a Good Thing - A 57-year-old man presents with rapidly progressive confusion, but the diagnosis isn’t where most adult physicians would look.

Follow the step-by-step clinical reasoning with Dr Mark Wijnen and see if you can solve it.

Read the paper: https://www.nejm.org/doi/full/10.1056/NEJMcps2510060

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