Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan

Jun Kido, et al

https://doi.org/10.1002/jimd.12384

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

Ségolène Toquet, et al

https://doi.org/10.1002/jimd.12403

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Häberle, et al

https://doi.org/10.1002/jimd.12100