{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:56:35Z","timestamp":1777802195822,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2001,4,1]],"date-time":"2001-04-01T00:00:00Z","timestamp":986083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2001,4]]},"abstract":"<jats:p>We report three infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hyperexcitability, low blood uric acid levels, and neuroimaging findings. The parents were consanguineous in two of these patients. The diagnosis was established by the presence of low blood uric acid levels, positive urine sulfite reaction, quantitative aminoacid analysis, and high-voltage electrophoresis of the urine sample showing a typical increase of S-sulfo-L-cysteine. Skin fibroblast cultures confirmed the diagnosis. Magnetic resonance imaging findings were suggestive of encephalomalacia with cystic changes due to hypoxic-ischemic encephalopathy. We conclude that molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with intractable seizures in the newborn period who have computed tomography and magnetic resonance imaging findings reminiscent of those of hypoxic-ischemic encephalopathy, and the urine sulfite dipstick test can be a part of the evaluation of these infants in neonatal intensive care units. ( J Child Neurol 2001;16:264-270).<\/jats:p>","DOI":"10.1177\/088307380101600406","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T19:24:33Z","timestamp":1201202673000},"page":"264-270","source":"Crossref","is-referenced-by-count":14,"title":["Molybdenum Cofactor Deficiency: Report of Three Cases Presenting as Hypoxic Ischemic Encephalopathy"],"prefix":"10.1177","volume":"16","author":[{"given":"Meral","family":"Topcu","sequence":"first","affiliation":[{"name":"From the Departments of Pediatric Neurology, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgay","family":"Coskun","sequence":"additional","affiliation":[{"name":"Pediatric Nutrition and Metabolism, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goknur","family":"Haliloglu","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatric Neurology, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isil","family":"Saatci","sequence":"additional","affiliation":[{"name":"Radiology, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2001,4,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071531"},{"key":"atypb2","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/j.1469-8749.1988.tb04781.x","volume":"30","author":"Aukett A.","year":"1988","journal-title":"Dev Med Child Neurol"},{"key":"atypb3","first-page":"595","volume":"123","author":"Hansen LK","year":"1993","journal-title":"EurJPediatr"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1007\/BF00735420"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445675"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800477"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(90)90691-Y"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340520"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1086\/301916"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973798"},{"key":"atypb11","unstructured":"Johnson JL, Wadman SK: Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency , in Scriver CR, Beaudet AL, Sly WS (eds): The Metabolic and Molecular Bases of Inherited Diseases, 7th ed. 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