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Diseases

Genetic and Rare Diseases Information Center (GARD)

Tetrahydrobiopterin deficiency


Other Names for this Disease
  • BH4 deficiency
  • Hyperphenylalaninemia caused by a defect in biopterin metabolism
  • Hyperphenylalaninemia, non-phenylketonuric
  • Non-phenylketonuric hyperphenylalaninemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Organizations

Organizations Supporting this Disease

  • Children Living with Inherited Metabolic Diseases (CLIMB)
    Climb Building
    176 Nantwich Road
    Crewe CW2 6BG
    United Kingdom
    Toll-free: 0800 652 3181
    Telephone: 0845 241 2173
    E-mail: contact@climb.org.uk
    Website: http://www.climb.org.uk

  • Genetic Metabolic Dietitians International
    P.O. Box 33985
    Fort Worth, TX 76162
    Website: http://www.gmdi.org/

  • Pediatric Neurotransmitter Disease Association
    28 Prescott Place
    Old Bethpage, NY 11804
    Telephone: 603-733-8409
    E-mail: pnd@pndassociation.org
    Website: http://www.pndassoc.org/

  • The Arc of the United States
    1010 Wayne Avenue, Suite 650
    Silver Spring, MD 20910
    Toll-free: (800) 433-5255
    Telephone: (301) 565-3842
    Fax: (301) 565-3843 or (301) 565-5342
    E-mail: info@thearc.org
    Website: http://www.thearc.org

Organizations Providing General Support

  • American Association on Intellectual and Developmental Disabilities
    444 North Capitol Street, NW
    Suite 846
    Washington, DC 20001-1512
    Toll-free: (800) 424-3688
    Telephone: (202) 387-1968
    Fax: (202) 387-2193
    Website: http://www.aaidd.org

  • The Society for Developmental and Behavioral Pediatrics
    6728 Old McLean Village Drive
    McLean, VA 22101
    Telephone: 703-556-9222
    E-mail: info@sdbp.org
    Website: http://www.sdbp.org/index.cfm

Other Names for this Disease
  • BH4 deficiency
  • Hyperphenylalaninemia caused by a defect in biopterin metabolism
  • Hyperphenylalaninemia, non-phenylketonuric
  • Non-phenylketonuric hyperphenylalaninemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.