title: The fate of tyrosinaemic Hungarian patients before the NTBC aera.
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).
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged. laszlo.aranka@med.u-szeged.hu
authors.forename: Aranka
authors.initials: A
authors.lastname: László
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Mária
authors.initials: M
authors.lastname: Rózsa
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Eva
authors.initials: E
authors.lastname: Sallay
authors.affiliation: University of Szeged, Department of Pathology, Szeged.
authors.forename: László
authors.initials: L
authors.lastname: Tiszlavicz
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Agnes
authors.initials: A
authors.lastname: Janovszky
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Agnes
authors.initials: A
authors.lastname: Várkonyi
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Eszter
authors.initials: E
authors.lastname: Karg
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Gyula
authors.initials: G
authors.lastname: Wittmann
authors.affiliation: University of Szeged, Department of Pediatrics, Szeged.
authors.forename: Sándor
authors.initials: S
authors.lastname: Túri
authors.affiliation: University of Szeged, Autonomic University of Madrid, Faculty of Sciencies, Department of Molecular Biology, Madrid, Spain.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000037:antagonists & inhibitors; D006528:Carcinoma, Hepatocellular / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics; D002675:Child, Preschool; D003512:Cyclohexanones / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D006814:Hungary; D006867:Hydrolases / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics; D008113:Liver Neoplasms / Q000235:genetics; D008297:Male; D009579:Nitrobenzoates / Q000627:therapeutic use*; D016896:Treatment Outcome; D014443:Tyrosine / Q000097:blood*; D020176:Tyrosinemias / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D014443:Tyrosine; D015111:4-Hydroxyphenylpyruvate Dioxygenase; D006867:Hydrolases; C020156:fumarylacetoacetase; C077073:nitisinone