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Tetrahydrobiopterin Therapy for Phenylketonuria

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Book cover Nutrition Management of Inherited Metabolic Diseases

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Abstract

  • Sapropterin dihydrochloride is a pharmaceutical preparation of BH4 available in 100 mg tablets or powder, which can be administered at doses of 5–20 mg/kg/day, for those individuals with BH4-responsive PKU.

  • In clinical trials, 20–61 % of individuals with phenylketonuria (PKU) have been found to respond to tetrahydrobiopterin (BH4) as demonstrated by a decrease in blood phenylalanine concentration.

  • Children with PKU ≤4 years of age that were determined to be responsive to BH4 have demonstrated a favorable safety profile to this medication.

  • Clinical studies on BH4 therapy have shown responders to BH4 therapy to have improved phenylalanine to tyrosine ratios and less variability in blood phenylalanine concentration.

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Authors and Affiliations

  1. Medical Affairs, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA, 94949, USA

    Elaina Jurecki MS, RD

Authors
  1. Elaina Jurecki MS, RD
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Correspondence to Elaina Jurecki MS, RD .

Editor information

Editors and Affiliations

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

    Laurie E. Bernstein

  2. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA

    Fran Rohr

  3. Clinical Genetics and Metabolism, University of Colorado Denver, Children’s Hospital Colorado, Aurora, Colorado, USA

    Joanna R. Helm

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© 2015 Springer International Publishing Switzerland

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Jurecki, E. (2015). Tetrahydrobiopterin Therapy for Phenylketonuria. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_12

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  • DOI: https://doi.org/10.1007/978-3-319-14621-8_12

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-14620-1

  • Online ISBN: 978-3-319-14621-8

  • eBook Packages: MedicineMedicine (R0)

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