Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan, Sebene; Meyer, Uta; Gokcay, GÜLDEN; Segarra, Nuria; de Baulny, Helene; van Spronsen, Francjan; Zeman, Jiri; de laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; de Juan, Jose; Pico, Maria; Santer, Rene; Scholl-Buergi, Sabine; Mandel, Hanna; Bliksrud, Yngve; Freisinger, Peter; Aldamiz-Echevarria, Luis; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh

doi:10.1186/s13023-014-0107-7

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S., Meyer U., Gokcay G. F., Segarra N. G., de Baulny H. O., van Spronsen F., ...More

Orphanet journal of rare diseases, vol.9, pp.107, 2014 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 9
Publication Date: 2014
Doi Number: 10.1186/s13023-014-0107-7
Journal Name: Orphanet journal of rare diseases
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.107
Keywords: Diet, Hepatocellular carcinoma, Liver transplantation, Newborn screening, NTBC, Psychomotor impairment, Succinylacetone, Therapeutic monitoring, Tyrosine, TANDEM MASS-SPECTROMETRY, DRIED-BLOOD SPOTS, HEREDITARY TYROSINEMIA, LIVER-TRANSPLANTATION, NITISINONE NTBC, TYPE-1, SUCCINYLACETONE, CARDIOMYOPATHY, DIAGNOSIS, PLASMA
Istanbul University Affiliated: Yes

Abstract

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.