Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease exp...

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Bibliographic Details
Main Authors: Nicole J. Van Bergen, Karen Gunanayagam, Adam M. Bournazos, Adhish S. Walvekar, Marc O. Warmoes, Liana N. Semcesen, Sebastian Lunke, Shobhana Bommireddipalli, Tim Sikora, Myrto Patraskaki, Dean L. Jones, Denisse Garza, Dale Sebire, Samuel Gooley, Catriona A. McLean, Parm Naidoo, Mugil Rajasekaran, David A. Stroud, Carole L. Linster, Mathew Wallis, Sandra T. Cooper, John Christodoulou
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
NAXD deficiency
NAXE deficiency
metabolite repair
metabolism
febrile illness
oral ulcers
Online Access:https://www.mdpi.com/1422-0067/24/4/3582

Internet

https://www.mdpi.com/1422-0067/24/4/3582

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