Professor Eva Morava of the Mayo Clinic takes us through the recently published consensus statement on the diagnosis and management of PGM1-CDG. Professor Morava provides a concise background to Congenital Disorders of Glycosylation and PGM1 disease specifically, and she explains how to recognise and diagnose this rare but treatable condition.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up and management

Altassan et al

https://doi.org/10.1002/jimd.12286

Interested listeners may also want to read the consensus statement for PMM2-CDG published at the start of this year (https://doi.org/10.1002/jimd.12024).