The outcome of seven patients with hereditary tyrosinemia type 1

GÖKAY S., USTKOYUNCU P. S., KARDAŞ F., KENDİRCİ M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.10, pp.1151-1157, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 10
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2015-0471
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1151-1157
  • Keywords: hepatocelluler carcinoma, nitisinone, succinylacetone, tyrosinemia type 1, HEPATOCELLULAR-CARCINOMA, HEPATORENAL TYROSINEMIA, NTBC, FUMARYLACETOACETATE, SUCCINYLACETONE, INHIBITION, PATHWAY, TURKEY
  • Erciyes University Affiliated: Yes

Abstract

Background: Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.