Pharmacological chaperones in OTC deficiency

Can small molecules stabilise OTC enzyme activity…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Pharmacological chaperones in OTC deficiency" was published on October 7, 2025 and runs 18 minutes.

October 7, 2025 ·18m · JIMD Podcasts

Summary

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

Episode Description