The fate of tyrosinaemic hungarian patients before the NTBC aera

Aranka László, Mária Rózsa, Éva Sallay, László Tiszlavicz, Ágnes Janovszky, Ágnes Várkonyi, Eszter Karg, Gyula Wittmann, Sándor Túri, Magdalena Ugarte

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Before the introduction of the NTBC treatment (Orfadine) from two tyrosinemic Hungarian families 1-3 tyrosinemic homozygous male patients died of hepatocellular carcinoma and one patient of hepatocellular carcinoma combined with clear cell renal adenocarcinoma. From the third tyrosinemic family one homozygous girl patient has been treated with NTBC (Orfadine), IMTV-AM, she is symptom-free. Her molecular genetic mutations analysis in the FAH gene detected a common intronel mutation, affecting splicing and of predicted severe effect, IVS6-1 g > t/IVS6-1 g > t with systemic name c.456-1 g > t/c.456-1 g > t (Prof. Magdalena Ugarte).

Original languageEnglish
Pages (from-to)415-419
Number of pages5
JournalIdeggyogyaszati szemle
Volume66
Issue number11-12
Publication statusPublished - Dec 1 2013

Keywords

  • Fate of non-treafed patients
  • Molecular genetic analysis
  • Mutation of fah gene: IVS6-1 g > t/IVS6-1 g > t
  • NTBC (Orfadine) treatment
  • Tyrosinemia
  • c.456-1 g > t/c.456-1 g > t

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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