Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox‐inactive derivatives designated NAD(P)HX. The highly conserved enzymes NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) function to repair intracellular NAD(P)HX. Recently, pathogenic variants in...

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Detalles Bibliográficos
Autores principales: Van Bergen, Nicole J., Walvekar, Adhish S., Patraskaki, Myrto, Sikora, Tim, Linster, Carole L., Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804276/
https://www.ncbi.nlm.nih.gov/pubmed/35866541
http://dx.doi.org/10.1002/jimd.12541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804276/
https://www.ncbi.nlm.nih.gov/pubmed/35866541
http://dx.doi.org/10.1002/jimd.12541

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