Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

AKTUĞLU ZEYBEK A. Ç., Kiykim E., SOYUÇEN E., CANSEVER M. Ş., Altay S., Zubarioglu T., ...More

PEDIATRICS INTERNATIONAL, vol.57, no.2, pp.281-289, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1111/ped.12503
  • Journal Name: PEDIATRICS INTERNATIONAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.281-289
  • Keywords: hepatocellular carcinoma, liver transplantation, NTBC, Turkey, tyrosinemia type 1, NTBC TREATMENT, HEPATORENAL TYROSINEMIA, NEUROLOGICAL CRISIS, NITISINONE, 2-(2-NITRO-4-TRIFLUOROMETHYLBENZOYL)-1,3-CYCLOHEXANEDIONE, FUMARYLACETOACETATE, INHIBITION, PATHWAY
  • Akdeniz University Affiliated: Yes

Abstract

BackgroundHereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome.