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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.

News & Events


NCATS Co-Sponsored Conferences

  • The Tenth International Catecholamine Symposium (XICS), Sunday, September 09, 2012 - Thursday, September 13, 2012
    Location: Ailomar Conference Grounds, Pacific Grove, CA
    Description: The Tenth International Catecholamine Symposium (XICS) will emphasize integration of basic science with clinical pathophysiology, by a program centering on disease-oriented research about catecholamine systems. The goals of the XICS are to: disseminate the latest important basic scientific, disease-oriented, and patient-oriented medical advances about catecholamines; foster interactions among basic scientists, disease-oriented researchers, and clinical investigators, via common interests in catecholamine systems; emphasize integrative approaches for understanding the roles of catecholamines in cellular, organ, systemic, and organismic integrity; comprehensively update research on catecholamines in rare and common disorders of development in pediatrics, regulation in adults, and degeneration in the elderly; and foster synthesis of molecular genetics with integrative physiology and pathophysiology, based on evolving understanding of catecholamine systems.

  • Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs , Wednesday, February 22, 2012 - Thursday, February 23, 2012
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: Together, the PKU Scientific Conference and the Evidence-based Practice Center report will provide evidence on important issues, recommend future research, and provide guidance to patients, their families, and health care professionals.

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.