{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:11:26Z","timestamp":1764259886381},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,12,11]],"date-time":"2014-12-11T00:00:00Z","timestamp":1418256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary tyrosinemia type 1(<jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective single center study was carried out based on the phenotype, therapy and outcome in 38 <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>urkish patients with <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>1 diagnosed during the last 20 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>None of the patients was diagnosed on newborn screening. The patients were grouped according to acute, subacute and chronic forms of the disorder. The main clinical manifestations were hepatosplenomegaly, liver and renal tubular dysfunction. Thirty\u2010six patients were treated with nitisinone. The mean duration of nitisinone treatment was 64 months and the mean dosage was 1.2\u2009mg\/kg\/day. Dietary compliance problems were frequent. Eleven patients had cognitive evaluation (mean total <jats:styled-content style=\"fixed-case\">IQ<\/jats:styled-content>, 84 points). Six patients had living donor liver transplantation despite nitisinone treatment: three due to suspected HCC, two for non\u2010compliance to diet, and one for both, at a median age of 90 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Nitisinone treatment is effective and improves both short\u2010 and long\u2010term prognosis of <jats:styled-content style=\"fixed-case\">HT<\/jats:styled-content>1. Early diagnosis on newborn screening is needed because delay in treatment increases the risk of the persistence of hepatic disease and HCC. Interruption of the drug can lead to re\u2010occurrence of hepatocellular damage and neurological crisis. Increased \u03b1\u2010fetoprotein and new hypoechoic nodule formation are the warning signs for HCC.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12503","type":"journal-article","created":{"date-parts":[[2014,9,16]],"date-time":"2014-09-16T03:05:39Z","timestamp":1410836739000},"page":"281-289","source":"Crossref","is-referenced-by-count":28,"title":["Hereditary tyrosinemia type 1 in <scp>T<\/scp>urkey: Twenty year single\u2010center experience"],"prefix":"10.1111","volume":"57","author":[{"given":"A Cigdem","family":"Aktuglu Zeybek","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Nutrition and Metabolism Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ertugrul","family":"Kiykim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Nutrition and Metabolism Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdogan","family":"Soyucen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Akdeniz University  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serif","family":"Cansever","sequence":"additional","affiliation":[{"name":"Central Laboratory of Pediatrics Laboratory of Metabolism Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suheyla","family":"Altay","sequence":"additional","affiliation":[{"name":"Dietetics Unit Cerrahpasa Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanyel","family":"Zubarioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Nutrition and Metabolism Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tulay","family":"Erkan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Gastroenterology, Hepatology and Nutrition Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Aydin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Nutrition and Metabolism Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-15720-2_18"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.2165\/00003495-200666060-00002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.17.1741"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110809"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.941"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050551"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000198810.57642.b4"},{"key":"e_1_2_5_10_1","first-page":"317","article-title":"Visceral pathology of hereditary tyrosinemia type 1","volume":"47","author":"Russo P","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0203-5"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5517-1"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30092"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840200513"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92685-9"},{"key":"e_1_2_5_16_1","first-page":"726","article-title":"Diagnosis and management of tyrosinemia type 1","volume":"7","author":"Holme E","year":"1995","journal-title":"Curr. Opin. Pediatr."},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005410820201"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005458703363"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1517\/14656566.9.7.1229"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.05.022"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2010.12.028"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.017"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2013.02.002"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9450-9"},{"key":"e_1_2_5_25_1","first-page":"353","article-title":"Application of medical genetics in Turkey","volume":"49","author":"Tun\u00e7bilek E","year":"2007","journal-title":"Turk. J. Pediatr."},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799576"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-011-0287-3"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.4067\/S0034-98872012000200004"},{"key":"e_1_2_5_29_1","unstructured":"JenkinsJ.Orphadin.2002. [Cited 30 December 2013.] Available from URL:http:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2002\/21232lbl.pdf"},{"key":"e_1_2_5_30_1","unstructured":"RothKS.Tyrosinemia (Emedicine Website).2007. [Cited 30 December 2013.] Available from URL:http:\/\/www.emedicine.com\/ped\/TOPIC2339.HTM"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2011.03427.x"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1090-1"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0793-1"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(05)70142-2"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80259-4"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200501000-00017"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.07.009"},{"key":"e_1_2_5_38_1","first-page":"501","article-title":"Neurological crisis mimicking acute pancreatitis in tyrosinemia type I","volume":"41","author":"Kalkano\u011flu HS","year":"1999","journal-title":"Turk. J. Pediatr."},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002153220704"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100240010146"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0807-z"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04048.x"},{"key":"e_1_2_5_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9394-5"},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.10.001"},{"key":"e_1_2_5_45_1","first-page":"96","article-title":"Behavioral and intellectual functioning in patients with tyrosinemia type 1","volume":"18","author":"Pohorecka M","year":"2012","journal-title":"Pediatr. Endocrinol. Diabetes Metab."}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12503","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T09:58:20Z","timestamp":1695981500000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,11]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/ped.12503"],"URL":"https:\/\/doi.org\/10.1111\/ped.12503","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,11]]}}}