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Hereditary Tyrosinemia

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Nutrition Management of Inherited Metabolic Diseases

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Abstract

  • Tyrosinemia type 1 causes liver failure, liver cancer, renal tubular dysfunction, and recurrent episodes of peripheral neuropathy when untreated, resulting in significantly shortened life expectancy.

  • Treatment with NTBC prevents the severe manifestations of disease but results in hypertyrosinemia.

  • Dietary treatment of tyrosinemia type 1 with limitation of phenylalanine and tyrosine intake is indicated to prevent severe hypertyrosinemia and the associated complications in patients treated with NTBC as well as in those with type 2.

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Authors and Affiliations

  1. Clinical Genetics and Metabolism, Children’s Hospital Colorado, University of Colorado Denver – Anschutz Medical Campus, Aurora, CO, USA

    Austin Larson

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  1. Austin Larson
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Correspondence to Austin Larson .

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Editors and Affiliations

  1. Children’s Hospital Colorado, University of Colorado Hospital, Aurora, CO, USA

    Laurie E. Bernstein

  2. Met Ed Co, Boulder, CO, USA

    Fran Rohr

  3. Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA

    Sandy van Calcar

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Larson, A. (2022). Hereditary Tyrosinemia. In: Bernstein, L.E., Rohr, F., van Calcar, S. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-94510-7_13

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  • DOI: https://doi.org/10.1007/978-3-030-94510-7_13

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-94509-1

  • Online ISBN: 978-3-030-94510-7

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