NAXD deficiency

Dr Carole Linster and Dr Nicole van Bergen explai…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "NAXD deficiency" was published on April 29, 2025 and runs 32 minutes.

April 29, 2025 ·32m · JIMD Podcasts

Summary

Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency Nicole J. Van Bergen, et al https://doi.org/10.1002/jimd.12541 NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses Nicole J Van Bergen, et al https://doi.org/10.1093/brain/awy310 Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma Nicole J Van Bergen, et al https://doi.org/10.3390/ijms24043582

Episode Description