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

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 to...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2012-09, Vol.107 (1-2), p.49-54
Main Authors: Larochelle, Jean, Alvarez, Fernando, Bussières, Jean-François, Chevalier, Isabelle, Dallaire, Louis, Dubois, Josée, Faucher, Frédéric, Fenyves, Daphna, Goodyer, Paul, Grenier, André, Holme, Elisabeth, Laframboise, Rachel, Lambert, Marie, Lindstedt, Sven, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Rinaldo, Piero, Scott, C. Ronald, Scriver, Charles, Mitchell, Grant A.
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Clinical Medicine
Clinical trials
Cyclohexanones - adverse effects
Cyclohexanones - therapeutic use
Enzyme Inhibitors - adverse effects
Enzyme Inhibitors - therapeutic use
Hepatorenal tyrosinemia
Humans
Indexing in process
Infant
Infant, Newborn
Kidney - metabolism
Klinisk medicin
Liver
Liver - metabolism
Liver Transplantation
Neonatal Screening
Nitisinone
Nitrobenzoates - adverse effects
Nitrobenzoates - therapeutic use
Quebec
Transplantation
Treatment Outcome
Tyrosinemias - diagnosis
Tyrosinemias - drug therapy
Tyrosinemias - therapy
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Summary: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. We recorded the clinical course of 78 Québec HT1 patients born between 1984 and 2004. There were three groups: those who never received nitisinone (28 patients), those who were first treated after 1month of age (26 patients) and those treated before 1month (24 patients). Retrospective chart review was performed for events before 1994, when nitisinone treatment began, and prospective data collection thereafter. No hospitalizations for acute complications of HT1 occurred during 5731months of nitisinone treatment, versus 184 during 1312months without treatment (p
ISSN:1096-7192
1096-7206
1096-7206
DOI:10.1016/j.ymgme.2012.05.022