{"doi":"10.1002/jmd2.12361","title":"The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem","abstract":"Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59-year-old 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-CoV-2 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.","journal":"JIMD Reports","year":2023,"id":387786,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.936,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":721821,"name":"Ryan H. Peretz","orcid":"0000-0002-7570-1018","position":1,"is_corresponding":false},{"id":1157168,"name":"Angela Pipitone Dempsey","orcid":null,"position":2,"is_corresponding":false},{"id":901389,"name":"Jacquelyn Britton","orcid":null,"position":3,"is_corresponding":false},{"id":665578,"name":"Lisa E. Kratz","orcid":null,"position":4,"is_corresponding":false},{"id":36509,"name":"Ada Hamosh","orcid":"0000-0002-1780-5230","position":5,"is_corresponding":false},{"id":378032,"name":"Hilary J. Vernon","orcid":"0000-0001-9940-9866","position":6,"is_corresponding":false},{"id":797318,"name":"Mark L. Batshaw","orcid":"0000-0001-7557-0700","position":7,"is_corresponding":false},{"id":36513,"name":"David Valle","orcid":"0000-0002-6560-4281","position":8,"is_corresponding":false},{"id":971894,"name":"RaeLynn Forsyth","orcid":"0000-0001-8264-6240","position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":null,"created_at":"2026-07-19T01:18:08.845494Z","pmid":"37151362","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}