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