ReviewMolecular genetics and metabolism2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Review in Molecular genetics and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.Journal of inherited metabolic disease · 2026Article
- Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.Orphanet journal of rare diseases · 2026Article
- Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1:Sultan Qaboos University medical journal · 2026Article
- Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review.Frontiers in pediatrics · 2026Article
- Article
- Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.Journal of inherited metabolic disease · 2025Review
- Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025Review
- Phenotypic diversity in NAXE mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.Cellular & molecular biology letters · 2025Article
- Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.NPJ genomic medicine · 2024Article
- Mitigating Vascular Inflammation by Mimicking AIBP Mechanisms: A New Therapeutic End for Atherosclerotic Cardiovascular Disease.International journal of molecular sciences · 2024Review
- Transient response to high-dose niacin therapy in a patient with NAXE deficiency.JIMD reports · 2024Article
- Review
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Editorial: Movement disorders in neurometabolic conditions.Frontiers in neurology · 2024Article
- Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.Frontiers in neurology · 2024Article
- Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.Current protocols · 2023Article
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.International journal of molecular sciences · 2023Article
- Article
- Whole-Genome Analyses Point to New Candidate Genes Underlying Estivation in Amphibians.Ecological and evolutionary physiologyReview
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 4 countries.
Funding
Abstract
The NAD(P)HX repair system is a metabolite damage repair mechanism responsible for restoration of NADH and NADPH after their inactivation by hydration. Deficiency in either of its two enzymes, NAD(P)HX dehydratase (NAXD) or NAD(P)HX epimerase (NAXE), causes a fatal neurometabolic disorder characterized by decompensations precipitated by inflammatory stress. Clinical findings include rapidly progressive muscle weakness, ataxia, ophthalmoplegia, and motor and cognitive regression, while neuroimaging abnormalities are subtle or nonspecific, making a clinical diagnosis challenging. During stress, nonenzymatic conversion of NAD(P)H to NAD(P)HX increases, and in the absence of repair, NAD(P)H is depleted, and NAD(P)HX accumulates, leading to decompensation; however, the contribution of each to the metabolic derangement is not established. Herein, we summarize the clinical knowledge of NAXE deficiency from 30 cases and lessons learned about disease pathogenesis from cell cultures and model organisms and describe a metabolomics signature obtained by untargeted metabolomics analysis in one case at the time of crisis and after initiation of treatment. Overall, biochemical findings support a model of acute depletion of NAD
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.