{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:21:53Z","timestamp":1747149713755,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,6,29]],"date-time":"2021-06-29T00:00:00Z","timestamp":1624924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 22\u2010year\u2010old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L\u2010Dopa supplementation the patient continued to show high prolactin levels, with a discrepancy between the neurological clinical picture and the hormonal biochemical levels. For this reason, other potential causes were ruled out by performing a cerebral magnetic resonance imaging, which demonstrated a solid lesion in the pituitary gland strongly suggestive of a prolactinoma. As the association between metabolic disorders affecting biogenic amine synthesis and prolactinoma has not been previously reported in humans, this report suggests that a critical evaluation of the use of prolactin as a guide for therapy dosage should be made in patients with DHPR deficiency disorders.<\/jats:p>","DOI":"10.1002\/jmd2.12236","type":"journal-article","created":{"date-parts":[[2021,6,29]],"date-time":"2021-06-29T12:14:26Z","timestamp":1624968866000},"page":"48-51","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5147-4367","authenticated-orcid":false,"given":"Nicola","family":"Vitturi","sequence":"first","affiliation":[{"name":"Division of Metabolic Diseases, Department of Medicine\u2010DIMED, University Hospital University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Lenzini","sequence":"additional","affiliation":[{"name":"Emergency Medicine Unit, Department of Medicine\u2010DIMED, University Hospital University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Luisi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Gugelmo","sequence":"additional","affiliation":[{"name":"Division of Clinical Nutrition, Department of Medicine\u2010DIMED, University Hospital University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Francini\u2010Pesenti","sequence":"additional","affiliation":[{"name":"Division of Clinical Nutrition, Department of Medicine\u2010DIMED, University Hospital University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Avogaro","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Department of Medicine\u2010DIMED, University Hospital University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1673630"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110293"},{"key":"e_1_2_7_4_1","article-title":"Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","volume":"15","author":"Opladen T","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.01.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-49771-5_1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000105242"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12236","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12236","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T21:59:51Z","timestamp":1693346391000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,29]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1002\/jmd2.12236"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12236","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2021,6,29]]},"assertion":[{"value":"2021-02-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}