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The presentation of these disorders ranges from life\u2010threatening intoxication in the neonate to asymptomatic status in adults. Late\u2010onset UCDs can present for the first time in adulthood and may mimic other causes of acute confusion or psychiatric diseases, and are often associated with neurological symptoms. Late\u2010onset UCDs may become apparent during periods of metabolic stress such as rapid weight loss, gastric bypass surgery, chronic starvation or the postpartum period. Early diagnosis is critical for effective treatment and to prevent long\u2010term complications of hyperammonemia. The challenges of management of adults include for example: (a) poor compliance to dietary and medical treatment which can result in recurrent hospital admissions; (b) severe neurological dysfunction; (c) the management of pregnancy and the postpartum period; and (d) access to multidisciplinary care peri\u2010operatively. In this review, we highlight a number of challenges in the diagnosis and management of adult patient with late\u2010onset UCDs and suggest a systematic management approach.<\/jats:p>","DOI":"10.1002\/jimd.12096","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T12:12:36Z","timestamp":1554120756000},"page":"1136-1146","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Challenges in diagnosing and managing adult patients with urea cycle disorders"],"prefix":"10.1002","volume":"42","author":[{"given":"Karolina M.","family":"Stepien","sequence":"first","affiliation":[{"name":"Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department Salford Royal NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes and Metabolism, Institute of Metabolism and Systems Research University of Birmingham  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian J.","family":"Hendriksz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Steve Biko Academic Hospital University of Pretoria  Pretoria South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen P.","family":"Treacy","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Diseases The Mater Misericordiae University Hospital  Dublin Ireland"},{"name":"Department of Paediatrics Trinity College  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.08.001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0105-9"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000028840.97261.c6"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0209-9"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00952.x"},{"key":"e_1_2_8_7_1","first-page":"293","article-title":"Late onset N\u2010acetylglutamate synthase deficiency caused by hypomorphic alleles","volume":"25","author":"Caldovic L","year":"2005","journal-title":"Hum Genet"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.06.011"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0122-9"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2008.05.007"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-2277.2001.tb00041.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066596"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccc.2005.05.002"},{"key":"e_1_2_8_16_1","unstructured":"AWMF(Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften e.V. 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