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    In 1992, Sven Lindstedt and colleagues1 reported the first study using 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (nitisinone) to treat five children with hereditary tyrosinaemia type 1. This disorder of tyrosine degradation has a high morbidity and mortality in the early years of life, primarily due to life-threatening hepatic disease including liver failure and hepatocellular…

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    • Wendy J Introne comments: #Nitisinone: two decades treating #hereditary #tyrosinaemia type 1 https://t.co/jFJDl7BvZd

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    In many, but not all, genetic metabolic conditions, biochemical markers are used in the diagnosis and monitoring of patients. However, these markers are not always relevant for the pathogenesis of the respective conditions. For example, in the classical urea cycle disorder citrullinaemia type 1,1 the metabolite citrulline, an amino acid, is greatly elevated in the blood and urine of affected…

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    • And the Linked Comment by Johannes Häberle: Suitability of #nitisinone for #alkaptonuria https://t.co/f1B9bGk3kT

  • Mashup Score: 0

    In 1992, Sven Lindstedt and colleagues1 reported the first study using 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (nitisinone) to treat five children with hereditary tyrosinaemia type 1. This disorder of tyrosine degradation has a high morbidity and mortality in the early years of life, primarily due to life-threatening hepatic disease including liver failure and hepatocellular…

    Tweet Tweets with this article
    • Linked Comment: #Nitisinone: two decades treating #hereditary #tyrosinaemia type 1 https://t.co/jFJDl7BvZd

  • Mashup Score: 0

    In 1992, Sven Lindstedt and colleagues1 reported the first study using 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (nitisinone) to treat five children with hereditary tyrosinaemia type 1. This disorder of tyrosine degradation has a high morbidity and mortality in the early years of life, primarily due to life-threatening hepatic disease including liver failure and hepatocellular…

    Tweet Tweets with this article
    • Linked Comment by Wendy J Introne: #Nitisinone: two decades treating #hereditary #tyrosinaemia type 1 https://t.co/jFJDl7BvZd #RareDisease