{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:25:53Z","timestamp":1771028753866,"version":"3.50.1"},"reference-count":2,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T00:00:00Z","timestamp":1595203200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T00:00:00Z","timestamp":1595203200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropsychobiology"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Aim:&lt;\/i&gt;&lt;\/b&gt; We describe the difficulties encountered in making a diagnosis where a somatic condition manifests itself alongside psychiatric symptoms associated with possible psychiatric comorbidities. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; A case study is presented of a 15-year-old girl who was eventually diagnosed with ornithine transcarbamylase (OTC) deficiency (hyperammonaemia type II), following an initial diagnosis of pervasive developmental disorder, selective mutism, and anorexia nervosa. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The OTC disease is not fully expressed in females and its prevalence is lower than in males. Around 17\u201320% of female patients found with a defective &lt;i&gt;OTC&lt;\/i&gt; gene on an X chromosome can suffer from OTC deficiency that may result in elevated levels of ammonia in the blood; this occurs when one of the X chromosomes become inactivated. Patients typically present with nausea, migraines, and a history of dietary protein avoidance. In more severe cases, ataxia, confusion, hallucinations, and cerebral oedema can occur. The OTC deficiency can thus remain undiagnosed in women for many years.&lt;b&gt;&lt;i&gt; Conclusion:&lt;\/i&gt;&lt;\/b&gt; Somatic comorbidity in psychiatric inpatients is commonly found; however, such disorders are rarely diagnosed or even treated adequately. <\/jats:p>","DOI":"10.1159\/000508679","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T21:00:31Z","timestamp":1595278831000},"page":"271-275","source":"Crossref","is-referenced-by-count":5,"title":["Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II"],"prefix":"10.1159","volume":"80","author":[{"given":"Piotr","family":"Niwinski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Remberk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filip","family":"Rybakowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0187-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000028727.77454.bd"}],"container-title":["Neuropsychobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508679","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508679","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:13:40Z","timestamp":1745424820000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000508679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,20]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,5,27]]},"published-print":{"date-parts":[[2021,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000508679","archive":["Portico"],"relation":{},"ISSN":["0302-282X","1423-0224"],"issn-type":[{"value":"0302-282X","type":"print"},{"value":"1423-0224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,20]]}}}