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Homocystinuria: Diagnosis and Management

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Nutrition Management of Inherited Metabolic Diseases

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Notes

  1. 1.

    Some individuals are pyridoxine responsive and require no other treatment.

  2. 2.

    Vitamin supplementation amounts included here have been reported; variation in practice exists [15]. Some centers supplement routinely and others only if blood concentrations are low.

  3. 3.

    Age of patient and clinical condition are considered by medical team to determine when and how much betaine to supplement.

  4. 4.

    Further described in Chap. 7.

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Authors and Affiliations

  1. Clinical Genetics and Metabolism, Children’s Hospital Colorado, University of Colorado Denver – Anschutz Medical Campus, 13123 East 16th Avenue, 300, Aurora, CO, 80045, USA

    Janet A. Thomas MD

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  1. Janet A. Thomas MD
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Correspondence to Janet A. Thomas MD .

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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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Thomas, J.A. (2015). Homocystinuria: Diagnosis and Management. 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_14

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  • DOI: https://doi.org/10.1007/978-3-319-14621-8_14

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