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    Tetrahydrobiopterin Deficiency

    Important
    It is possible that the main title of the report Tetrahydrobiopterin Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Atypical Hyperphenylalaninemia
    • BH4 Deficiency
    • Malignant Hyperphenylalaninemia
    • Atypical PKU
    • Malignant PKU

    Disorder Subdivisions

    • Tetrahydrobiopterin Synthesis
    • Tetrahydrobiopterin Regeneration

    General Discussion

    Tetrahydrobiopterin Deficiency is a rare genetic, neurological disorder present at birth. It is caused by an inherited inborn error of metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of other enzymes. When Tetrahydrobiopterin is deficient, an abnormally high blood level of the amino acid phenylalanine, along with low levels of certain neurotransmitters, usually occurs. To avoid irreversible neurological damage, diagnosis and treatment of this progressive disorder is essential as early as possible in life.

    The subdivisions of Tetrahydrobiopterin Deficiency are as follows:
    Tetrahydrobiopterin Synthesis
    GTP Cyclohydrolase I (GTPCH) Deficiency
    6-Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency
    Tetrahydrobiopterin Regeneration
    Pterin-4-alpha-Carbinolamine Dehydratase (PCD) Deficiency
    Dihydropteridine Reductase (DHPR) Deficiency

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 5/23/2008
    Copyright 1987, 1990, 1995, 1999, 2003 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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