Why everyone needs to know about Urea Cycle Disorders

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