{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T04:49:06Z","timestamp":1782535746960,"version":"3.54.5"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,6,19]],"date-time":"2013-06-19T00:00:00Z","timestamp":1371600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non\u2010classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non\u2010classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were \u2265 16 years old. The largest subgroup (121 patients) had X\u2010linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non\u2010classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.<\/jats:p>","DOI":"10.1007\/s10545-013-9624-0","type":"journal-article","created":{"date-parts":[[2013,6,18]],"date-time":"2013-06-18T16:02:59Z","timestamp":1371571379000},"page":"21-30","source":"Crossref","is-referenced-by-count":66,"title":["Cross\u2010sectional observational study of 208 patients with non\u2010classical urea cycle disorders"],"prefix":"10.1002","volume":"37","author":[{"given":"Corinne M.","family":"R\u00fcegger","sequence":"first","affiliation":[{"name":"Division of Metabolism University Children's Hospital Steinwiesstr. 75 Zurich 8032 Switzerland"},{"name":"Children's Research Center Zurich 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Str. 2 Bregenz 6900 Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Clinic of Pediatrics I, Division Metabolic Inherited Disorders Medical University Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Division of Inherited Metabolic Diseases University Hospital Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin H.","family":"Lachmann","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie","family":"Lotz\u2010Havla","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, 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