{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T18:54:49Z","timestamp":1793040889936,"version":"4.5.0"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,5,13]],"date-time":"2004-05-13T00:00:00Z","timestamp":1084406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Tyrosinaemia type I (TT I) (McKusick 276700) is a heterogeneous disorder with a broad spectrum of clinical phenotypes. Although histological abnormalities of the pancreas are well recognized, there are only incidental reports of pancreatic dysfunction manifested as insulin\u2010dependent diabetes mellitus. We report three subjects with TT I and acute liver dysfunction who had hyperinsulinism in early infancy. Hypoglycaemia persisted despite dietary treatment and one patient had inadequate lipolysis at the time of hypoglycaemia. All three patients were successfully treated with diazoxide (10\u2009mg\/kg per day) and chlorthiazide (35\u2009mg\/kg per day) and treatment was gradually withdrawn after 9, 13 and 34 months, respectively. The mechanism of pancreatic dysfunction in TT I is unknown but may be related to the toxic metabolites that accumulate in this condition. We conclude that hyperinsulinism is not a rare complication in TT I. In patients with persistent hypoglycaemia, C\u2010peptide should always be measured. Treatment with diazoxide and chlorthiazide is highly effective, appears to be safe, and does not need to be continued lifelong.<\/jats:p>","DOI":"10.1007\/s10545-005-5517-1","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:14:17Z","timestamp":1115198057000},"page":"131-135","source":"Crossref","is-referenced-by-count":43,"title":["Hyperinsulinism in tyrosinaemia type I"],"prefix":"10.1002","volume":"28","author":[{"given":"U.","family":"Baumann","sequence":"first","affiliation":[{"name":"The Liver Unit  UK"},{"name":"Birmingham Children's Hospital  Steelhouse Lane Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Preece","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Birmingham Children's Hospital  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Green","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Birmingham Children's Hospital  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Kelly","sequence":"additional","affiliation":[{"name":"The Liver Unit  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"McKiernan","sequence":"additional","affiliation":[{"name":"The Liver Unit  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,5,13]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-5517-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-5517-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:24:52Z","timestamp":1694820292000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-5517-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,13]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1007\/s10545-005-5517-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-5517-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,13]]}}}