ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2018
[Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 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
- 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
- Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.Translational pediatrics · 2024Article
- Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.NPJ genomic medicine · 2024Article
- Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.Indian journal of pediatrics · 2024Article
- Article
- Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.Journal of inherited metabolic disease · 2022Review
- NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.Molecular genetics and metabolism · 2022Review
- Intracellular AIBP (Apolipoprotein A-I Binding Protein) Regulates Oxidized LDL (Low-Density Lipoprotein)-Induced Mitophagy in Macrophages.Arteriosclerosis, thrombosis, and vascular biology · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early-onset progressive encephalopathy is a lethal encephalopathy caused by NAXE gene mutations. This paper reports the clinical and genetic features of a patient with early-onset progressive encephalopathy. A 4-year-old boy admitted to the hospital had repeated walking instability and limb weakness for 2 years. The patient and his elder brother (already dead) had clinical onset at 2 years of age. Both of them showed symptoms such as strabismus, ataxia, reduced muscle tone, delayed development, and repeated respiratory failure after infection. The NAXE gene of the patient showed new compound heterozygous mutations, i.e., c.255 (exon 2) A>T from his mother and c.361 (exon 3) G>A from his father. The NAXE gene encodes an epimerase that is essential for the repair of cellular metabolites of NADHX and NADPHX. This disease is associated with a deficiency of the mitochondrial NAD(P)HX repair system. Patients usually have rapid disease progression. They are also quite likely to have respiratory failure immediately after infection.
Indexed as
Identifiers
30022751PMC7389208W2981972662What OpenQuestion holds
Registered trials
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