NAXD deficiency

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