Tyrosine Hydroxylase Deficiency: Consensus guidelines

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

People in this episode

Guests: Mariya Sigatullina Bondarenko, Thomas Opladen, Ivana Badnjarevic

Topics covered

• tyrosine hydroxylase deficiency
• consensus guidelines
• diagnosis
• treatment
• patient experience

Keywords

• tyrosine hydroxylase deficiency
• consensus guidelines
• diagnosis
• treatment
• patient experience
• PROMs
• metabolic disease

Mentioned in this episode

Organizations: Journal of Inherited Metabolic Disease

Books & works: Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

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