The outcome of seven patients with hereditary tyrosinemia type 1


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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, ss.1151-1157, 2016

  • Cilt numarası: 29 Konu: 10
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2015-0471
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.1151-1157

Özet

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.