NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Author:
Affiliation:
1. Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, China
2. Institute of Human Genetics, Technische Universität München, München, Germany
Funder
Prevention and Control of Major Chronic Non-Communicable Disease
BMBF
GENOMIT
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/143/2/e8/32413848/awz375.pdf
Reference8 articles.
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2. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood;Kremer;Am J Hum Genet,2016
3. Metabolite damage and its repair or pre-emption;Linster;Nat Chem Biol,2013
4. Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair;Marbaix;J Biol Chem,2011
5. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy;Spiegel;Neurogenetics,2016
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1. Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations;Stem Cell Research;2024-04
2. Progressive encephalopathy after routine 4‐month immunizations in a patient with NAXD genetic variant;American Journal of Medical Genetics Part A;2024-01-12
3. Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas;Clinical Neurology and Neurosurgery;2023-07
4. Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma;International Journal of Molecular Sciences;2023-02-10
5. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency;Journal of Inherited Metabolic Disease;2022-08-07
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