{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T10:32:04Z","timestamp":1779100324553,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003625","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["H24-()--071"],"award-info":[{"award-number":["H24-()--071"]}],"id":[{"id":"10.13039\/501100003625","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Urea cycle disorder (<jats:styled-content style=\"fixed-case\">UCD<\/jats:styled-content>) is an inborn error of the metabolic pathway producing urea from ammonia, which occurs primarily in the liver. Decreased excretion of nitrogen in the urea cycle due to deficiency of carbamoyl phosphate synthase <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">CPSI<\/jats:styled-content>), ornithine transcarbamylase (<jats:styled-content style=\"fixed-case\">OTC<\/jats:styled-content>), argininosuccinate synthase (<jats:styled-content style=\"fixed-case\">ASS<\/jats:styled-content>), argininosuccinate lyase (<jats:styled-content style=\"fixed-case\">ASL<\/jats:styled-content>), and <jats:italic><jats:styled-content style=\"fixed-case\">N<\/jats:styled-content><\/jats:italic>\u2010acetyl glutamate synthase (<jats:styled-content style=\"fixed-case\">NAGS<\/jats:styled-content>) causes hyperammonemia. We examined the clinical manifestations, treatment, and prognosis of 177 patients with <jats:styled-content style=\"fixed-case\">UCD<\/jats:styled-content> from <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>anuary 1999 to <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>arch 2009 in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan. Compared with a previous study conducted in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan, a larger number of patients survived without mental retardation, even when the peak blood ammonia was &gt;360\u2009\u03bcmol\/L. In those with peak blood ammonia &gt;360\u2009\u03bcmol\/L, an indicator of poor prognosis, the frequency of convulsions, mental retardation, brain abnormality on magnetic resonance imaging, hemodialysis, liver transplantation, and intake of non\u2010protein formulas was significantly higher than in those with peak blood ammonia &lt;360\u2009\u03bcmol\/L. In this article, we have reported the current state of <jats:styled-content style=\"fixed-case\">UCD<\/jats:styled-content> to evaluate prognosis and its relationship with peak blood ammonia and hemodialysis.<\/jats:p>","DOI":"10.1111\/ped.12439","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T07:05:34Z","timestamp":1405494334000},"page":"506-509","source":"Crossref","is-referenced-by-count":30,"title":["Diagnosis and treatment of urea cycle disorder in <scp>J<\/scp>apan"],"prefix":"10.1111","volume":"56","author":[{"given":"Kimitoshi","family":"Nakamura","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kumamoto University Hospital  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Kido","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Hospital  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mitsubuchi","sequence":"additional","affiliation":[{"name":"Department of Neonatology Kumamoto University Hospital  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Hospital  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"1909","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Brusilow SW","year":"2001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/134.6.1605S"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390226"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<378::AID-AJMG2>3.0.CO;2-Q"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1347-z"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609193351204"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380119"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198406073102304"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400421"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0303-7"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.1.54"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005374027693"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9427-0"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.17"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111834"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)91503-4"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199102000-00009"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0143-y"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111835"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005365825875"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.111836"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/14.4.910"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-199704150-00021"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.20587"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12439","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12439","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T11:23:32Z","timestamp":1695986612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/ped.12439"],"URL":"https:\/\/doi.org\/10.1111\/ped.12439","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8]]}}}