Tyrosine Hydroxylase Deficiency: Consensus guidelines

In this episode, Mariya Sigatullina Bondarenko, T…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Tyrosine Hydroxylase Deficiency: Consensus guidelines" was published on April 14, 2026 and runs 46 minutes.

April 14, 2026 ·46m · JIMD Podcasts

Summary

In this episode, Mariya Sigatullina Bondarenko, Thomas Opladen and Ivana Badnjarevic discuss the first international consensus guideline for tyrosine hydroxylase deficiency. They explore diagnosis, treatment, the move away from rigid subtype labels, and why patient experience matters in shaping better care. PROMs link 👉 https://www.proms-ntd.org Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency Mariya Sigatullina Bondarenko, et al https://doi.org/10.1002/jimd.70106

Episode Description