{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T02:59:15Z","timestamp":1774666755617,"version":"3.50.1"},"reference-count":31,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,4,1]]},"abstract":"<jats:p>Hyperammonemic crises in ornithine transcarbamylase deficiency (OTC) can be associated with devastating cerebral edema resulting in severe long-term neurologic impairment and death. We present an 8-year-old boy who had late-onset OTC deficiency in which early and aggressive management of hyperammonemia and associated cerebral edema, including therapeutic hypothermia and barbiturate-induced coma, resulted in favorable neurologic outcome. Our patient presented with vomiting and altered mental status, and was found to have a significantly elevated serum ammonia level of 1561 \u03bcmol\/L. Hyperammonemia was managed with hemodialysis, 10% sodium phenylacetate, 10% sodium benzoate, L-arginine, intravenous 10% dextrose, intralipids, and protein restriction. He developed significant cerebral edema with intracranial pressures &amp;gt;20 mm\u2009Hg, requiring treatment with 3% saline and mannitol. Despite this treatment our patient continued to have elevated intracranial pressures, which were treated aggressively with non-conventional modalities including therapeutic hypothermia, barbiturate-induced coma, and external ventricular drainage. This therapy resulted in stabilization of hyperammonemia and resolution of cerebral edema. Molecular testing later revealed a hemizygous mutation within the OTC gene. Neuropsychological testing 1 year after discharge showed normal intelligence with no visual-motor deficits, minor deficits in working memory and processing speed, and slightly below average processing speed and executive functioning.<\/jats:p>","DOI":"10.1542\/peds.2013-1324","type":"journal-article","created":{"date-parts":[[2014,3,11]],"date-time":"2014-03-11T01:00:40Z","timestamp":1394499640000},"page":"e1072-e1076","source":"Crossref","is-referenced-by-count":9,"title":["Late-Onset Ornithine Transcarbamylase Deficiency: Treatment and Outcome of Hyperammonemic Crisis"],"prefix":"10.1542","volume":"133","author":[{"given":"Kelly R.","family":"Bergmann","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"McCabe","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. 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