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First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59\u2010year\u2010old woman with a UCD who contributed to advances in the understanding and treatment of this group of disorders. This individual was diagnosed with carbamoyl phosphate synthetase 1 deficiency based on a biochemical assay under a research context predating genetic sequencing, treated longitudinally as having this metabolic disorder, and was among the first participants to trial UCD pharmaceutical therapies. She ultimately succumbed to a SARS\u2010CoV\u20102 infection while maintaining unexpectedly normal ammonium levels. Postmortem genetic testing revealed ornithine transcarbamylase deficiency. This individual's contributions to the field of UCDs is discussed herein.<\/jats:p>","DOI":"10.1002\/jmd2.12361","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T00:18:07Z","timestamp":1675037887000},"page":"233-237","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post\u2010mortem"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8264-6240","authenticated-orcid":false,"given":"RaeLynn","family":"Forsyth","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7570-1018","authenticated-orcid":false,"given":"Ryan H.","family":"Peretz","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Dempsey","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacquelyn","family":"Britton","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Kratz","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ada","family":"Hamosh","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilary","family":"Vernon","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark L.","family":"Batshaw","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research Children's National Hospital  Washington DC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1515\/bchm2.1932.210.1-2.33"},{"key":"e_1_2_9_3_1","first-page":"1","article-title":"Congenital disorders of the urea cycle and ammonia detoxification","volume":"1","author":"Colombo JP","year":"1971","journal-title":"Monogr Paediatr"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0614-4"},{"key":"e_1_2_9_6_1","unstructured":"State Profiles | NewSTEPs.APHL2021. 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