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NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
Rocio Victoria Garcia1, Hilda Verónica Aráoz2,3, María Mercedes Pérez2
1Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
American Journal of Medical Genetics. Part A
|November 30, 2025
Summary
Neurometabolic diseases like NAXD-associated encephalopathy present with recurrent fevers, developmental regression, and neurological issues. Early diagnosis is crucial for potential therapeutic interventions in these severe genetic disorders.
Area of Science:
- Genetics
- Neurology
- Metabolic Disorders
Background:
- Neurometabolic diseases stem from genetic defects in metabolic pathways.
- NAXD gene variants are implicated in a rare group of these disorders.
- Characterizing these conditions is vital for understanding disease mechanisms.
Purpose of the Study:
- To detail the clinical, radiological, and molecular features of three patients with NAXD gene variants.
- To expand the understanding of NAXD-associated encephalopathy through literature review.
- To highlight the significance of NAXD deficiency in neuroinflammatory diseases.
Main Methods:
- Retrospective analysis of medical records for three patients.
- Identification of compound heterozygous variants in the NAXD gene.
- Comprehensive literature review on NAXD-related disorders.
Main Results:
- Three patients presented with chronic, progressive encephalopathy triggered by fever.
- Identified variants: c.794_798dup, c.922C>T, and c.269G>T in NAXD.
- Patients exhibited developmental regression, movement disorders, systemic involvement, and CNS lesions.
Conclusions:
- NAXD enzymatic deficiency causes a severe neurometabolic disorder with multisystemic impact.
- The condition is characterized by febrile-triggered episodes, often leading to poor outcomes.
- NAXD-associated encephalopathy should be considered in neuroinflammatory disease diagnostics, especially with systemic features.
