{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:56:36Z","timestamp":1773053796014,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T00:00:00Z","timestamp":1764460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T00:00:00Z","timestamp":1764460800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neurometabolic diseases are a group of genetic disorders caused by defects in metabolic networks. To characterize the clinical, radiological, and molecular phenotype of three patients with variants in the\n                    <jats:italic>NAXD<\/jats:italic>\n                    gene, together with a review of the literature. A retrospective review of medical records was conducted. Three patients with chronic, progressive, recurrent encephalopathy triggered by fever were identified, with two clinically relevant variants in compound heterozygosity in the\n                    <jats:italic>NAXD<\/jats:italic>\n                    (NM_001242882.2) gene. Individuals 1 and 2: c.794_798dup and c.922C&gt;T. Individual 3: c.269G&gt;T and c.922C&gt;T. We report three patients with neurometabolic disease characterized by recurrent progressive encephalopathy, developmental regression, and movement disorders, associated with systemic involvement and inflammatory\u2010appearing central nervous system lesions due to NAXD enzymatic deficiency. The condition follows a febrile episode, often resulting in early mortality. Other cases showed recurrent episodes triggered by febrile events, characterized by encephalopathy, abnormal movements, ataxia, and seizures. The most frequent systemic manifestations included hematological, mucocutaneous, and cardiac involvement. These three patients broaden the clinical and molecular spectrum of\n                    <jats:italic>NAXD<\/jats:italic>\n                    \u2010associated encephalopathy. Given its potential therapeutic implications, this condition should be considered in the differential diagnosis of neuroinflammatory diseases with poor outcomes, especially in cases with multisystem manifestations.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70013","type":"journal-article","created":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T02:31:15Z","timestamp":1764556275000},"page":"854-861","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>NAXD<\/i>\n                    Encephalopathy Mimicking Neuroinflammatory Disease"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5457-624X","authenticated-orcid":false,"given":"Rocio Victoria","family":"Garcia","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1080-9969","authenticated-orcid":false,"given":"Hilda Ver\u00f3nica","family":"Ar\u00e1oz","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"},{"name":"Molecular Biology Laboratory Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Mercedes","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2738-0544","authenticated-orcid":false,"given":"Celeste","family":"Buompadre","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvina Gomez","family":"Montoya","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Rugilo","sequence":"additional","affiliation":[{"name":"Imaging Department Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian Sanchez","family":"Loria","sequence":"additional","affiliation":[{"name":"National Centre for Genomics and Bioinformatics, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JiHye","family":"Kim","sequence":"additional","affiliation":[{"name":"3billion Inc.  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Aschettino","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5527-3901","authenticated-orcid":false,"given":"Cristina","family":"Alonso","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. 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