{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T11:57:12Z","timestamp":1767182232286,"version":"3.44.0"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T00:00:00Z","timestamp":1756944000000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Pyridoxine\u2010dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11\u2010day\u2010old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated serum ammonia and lactate, and abnormal liver function tests. Despite multiple antiepileptic and metabolic treatments, seizures persisted, and the infant developed progressive metabolic disturbances. Genetic analysis revealed a homozygous pathogenic variant in the <jats:italic>ALDH7A1<\/jats:italic> gene, confirming the diagnosis of PDE. The patient's condition deteriorated despite intensive management, culminating in cardiorespiratory arrest and death. This case underscores the importance of early recognition of PDE, especially in consanguineous populations, and highlights the critical need for prompt pyridoxine therapy to prevent fatal outcomes.<\/jats:p>","DOI":"10.1002\/ccr3.70852","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T04:11:02Z","timestamp":1757045462000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neonatal Refractory Seizures and Hyperammonemia in a Neonate With <scp>ALDH7A1<\/scp> Deficiency"],"prefix":"10.1002","volume":"13","author":[{"given":"Maryam","family":"Saeedi","sequence":"first","affiliation":[{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayvan","family":"Mirnia","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar","family":"Sedighzadeh","sequence":"additional","affiliation":[{"name":"Shahid Chamran University of Ahvaz  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4496-1108","authenticated-orcid":false,"given":"Razieh","family":"Sangsari","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci12010065"},{"volume-title":"GeneReviews","year":"2001","author":"Gospe S. 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