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

Sebene Mayorandan, Uta Meyer, Gülden Gokcay, Nuria Garcia Segarra, Hélène Ogier De Baulny, Francjan Van Spronsen, Jiri Zeman, Corinne De Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi-Vici, Dorothea Moeslinger, Michaela Brunner-Krainz, Amelie Sophia Lotz-Havla, José Angel Cocho De Juan, Maria Luz Couce Pico, René Santer, Sabine Scholl-Bürgi, Hanna MandelYngve Thomas Bliksrud, Peter Freisinger, Luis Jose Aldamiz-Echevarria, Michel Hochuli, Matthias Gautschi, Jessica Endig, Jens Jordan, Patrick McKiernan, Stefanie Ernst, Susanne Morlot, Arndt Vogel, Johannes Sander, Anibh Martin Das

Research output: Contribution to journalArticle

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. Methods. Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results: Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (

Original languageEnglish
Article number107
JournalOrphanet Journal of Rare Diseases
Volume9
Issue number1
DOIs
Publication statusPublished - Aug 1 2014

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Keywords

  • Diet
  • Hepatocellular carcinoma
  • Liver transplantation
  • Newborn screening
  • NTBC
  • Psychomotor impairment
  • Succinylacetone
  • Therapeutic monitoring
  • Tyrosine

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., De Baulny, H. O., Van Spronsen, F., Zeman, J., De Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho De Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., ... Das, A. M. (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet Journal of Rare Diseases, 9(1), [107]. https://doi.org/10.1186/s13023-014-0107-7