Tyrosine Hydroxylase Deficiency: Consensus guidelines

Tyrosine Hydroxylase Deficiency: Consensus guidelines

April 13, 2026 · 47 min

About this episode

Experts discuss the first international consensus guideline for tyrosine hydroxylase deficiency, covering diagnosis, treatment, and the importance of patient experience.

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

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