Pharmacological chaperones in OTC deficiency

What this episode covers

Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones, a novel approach that strengthens enzyme stability in patient-derived liver models and offers new hope for female OTC carriers. Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models Adhuresa Ramosaj, et al https://doi.org/10.1002/jimd.70043 Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation Adhuresa Ramosaj et al https://doi.org/10.1016/j.ymgmr.2023.101007

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Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 18 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on October 7, 2025.

What is this episode about?

Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones, a novel approach that strengthens enzyme stability in...

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