Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy. 

The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation?
Silvia Radenkovic, et al
https://doi.org/10.1002/jimd.12601

Interested listeners may want to read gene therapy paper discussed herein:
https://doi.org/10.1016/j.trsl.2023.01.004

PGM1-CDG: isoforms, phenotyping and gene therapy

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

New tracks tagged #PGM1