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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

Journal article
Authors Jean Larochelle
Fernando Alvarez
Jean-François Bussières
Isabelle Chevalier
Louis Dallaire
Josée Dubois
Frédéric Faucher
Daphna Fenyves
Paul Goodyer
André Grenier
Elisabeth Holme
Rachel Laframboise
Marie Lambert
Sven Lindstedt
Bruno Maranda
Serge Melançon
Aicha Merouani
John Mitchell
Guy Parizeault
Luc Pelletier
Véronique Phan
Piero Rinaldo
C Ronald Scott
Charles Scriver
Grant A Mitchell
Published in Molecular genetics and metabolism
Volume 107
Issue 1-2
Pages 49-54
ISSN 1096-7206
Publication year 2012
Published at Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Pages 49-54
Language en
Links dx.doi.org/10.1016/j.ymgme.2012.05....
Subject categories Clinical Medicine

Abstract

Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in Québec since 1994.

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