{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:02:16Z","timestamp":1790550136032,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T00:00:00Z","timestamp":1598832000000},"content-version":"vor","delay-in-days":243,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>During Jan. 2016\u2013Dec. 2019, nine Chinese patients from eight unrelated families were diagnosed with neonatal\u2010onset UCDs by targeted panel sequencing or whole\u2010exome sequencing (WES). Their clinical manifestations, biochemical features, 180\u2010day\u2010age outcomes, and molecular genetic characteristics were reviewed retrospectively. NGS\u2010based tests revealed 7 patients diagnosed with ornithine transcarbamylase deficiency (OTCD) and 2 with carbamoylphosphate synthetase I deficiency (CPS1D). The spectrum of the clinical presentation of nine affected individuals progressed from unspecific symptoms like poor feeding to somnolence, coma, and death. All patients presented with an acute hyperammonemia. The most robust metabolic pattern in OTCD was hyperglutaminemic hyperammonemia with high concentration of urine orotic acid, and it was reported in six patients. Of ten variants found on the <jats:italic>OTC<\/jats:italic> gene and CPS1 gene, 3 were novel: (c.176T&gt;C (p.L59P)) in the <jats:italic>OTC<\/jats:italic> gene, c.2938G&gt;A (p.G980S) and c.3734T&gt;A (p.L1245H) in the <jats:italic>CPS1<\/jats:italic> gene. There was a high mortality rate of 77.78% (7\/9) for all the defects combined. An OTC\u2010deficient male and a CPS1\u2010deficient female survived from episodes of hyperammonemia. Although prompt recognition of UCD and the use of alternative pathway therapy in addition to provision of appropriate nutrition and dialysis improved survival, the overall outcomes for the neonatal\u2010onset type are poor in China.<\/jats:p>","DOI":"10.1155\/2020\/5690915","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T23:30:57Z","timestamp":1598916657000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The Application of Next\u2010Generation Sequencing (NGS) in Neonatal\u2010Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients"],"prefix":"10.1155","volume":"2020","author":[{"given":"Qingnv","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huafei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9261-213X","authenticated-orcid":false,"given":"Tianwen","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,31]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12100"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2015.03.009"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2015.04.003"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/3460902"},{"key":"e_1_2_10_5_2","first-page":"37","article-title":"Testing for inborn errors of metabolism","volume":"24","author":"Kwon J. 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