{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T19:32:27Z","timestamp":1775158347216,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7403,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1984,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carbamyl phosphate synthetase\u2010I (CPS\u2010I) catalyzes the first reaction required for the conversion of ammonia to urea through the urea cycle. Severe CPS\u2010I deficiency causes marked hyperammonemia with encephalopathy in infancy and usually results in death within the first few months of life. We describe a 33\u2010year\u2010old woman whose CPS\u2010I activity is less than 5% of normal. She has had mild, intermittent symptoms throughout life but has never experienced severe encephalopathy. Although mildly retarded, she has no major neurological deficits. Therapy with a low\u2010protein diet, lactulose, and sodium benzoate has prevented recurrence of hyperammonemia and symptoms. Cranial computed tomographic scans demonstrate prominent lucency of cerebral white matter, and cerebral evoked potential recordings indicate slowed central conduction. These findings suggest that the metabolic disturbances in this patient may have adversely affected central myelin formation or maintenance. This woman represents, to our knowledge, the oldest reported patient with CPS\u2010I deficiency, and the case illustrates the need to consider urea cycle disorders in the differential diagnosis of intermittent neurological symptoms regardless of the patient's age.<\/jats:p>","DOI":"10.1002\/ana.410160118","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:10:45Z","timestamp":1104599445000},"page":"90-93","source":"Crossref","is-referenced-by-count":24,"title":["Clinical features of carbamyl phosphate synthetase\u2010I deficiency in an adult"],"prefix":"10.1002","volume":"16","author":[{"given":"Gregory","family":"Call","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan R.","family":"Seay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Sherry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ijaz A.","family":"Qureshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198206103062303"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197505222922101"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/93.2.423"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(73)90065-X"},{"key":"e_1_2_1_6_2","first-page":"116","article-title":"Lesions in the cerebral nervous system associated with inborn errors of amino acid metabolism","volume":"56","author":"Donohue WL","year":"1967","journal-title":"Acta Pediatr Scand"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.47.251.47"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.46.1.28"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_10_2","first-page":"345","article-title":"Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency","volume":"33","author":"McReynolds JW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_2","first-page":"325","volume-title":"The Urea Cycle","author":"Nuzum CT","year":"1976"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/6.2.171"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)31269-7"},{"key":"e_1_2_1_14_2","first-page":"367","volume-title":"The Urea Cycle","author":"Shih V","year":"1976"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.2.139"},{"key":"e_1_2_1_16_2","first-page":"83","volume-title":"Pediatric Neuropathology","author":"Smith JF","year":"1974"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0363-8235(81)90032-6"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(74)90223-X"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-6903-6_61"},{"key":"e_1_2_1_20_2","first-page":"402","volume-title":"The Metabolic Basis of Inherited Disease","author":"Walser M","year":"1983"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410160118","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410160118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T08:07:45Z","timestamp":1697789265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410160118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,7]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,7]]}},"alternative-id":["10.1002\/ana.410160118"],"URL":"https:\/\/doi.org\/10.1002\/ana.410160118","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,7]]}}}