Why everyone needs to know about Urea Cycle Disorders

Professors Jun Kido, Johannes Häberle and Fanny M…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Why everyone needs to know about Urea Cycle Disorders" was published on July 9, 2021 and runs 30 minutes.

July 9, 2021 ·30m · JIMD Podcasts

Summary

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

Episode Description