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Results 1 - 3 of 3 for Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
  1. Tetrahydrobiopterin deficiency 
    ... deficiency Genetic Testing Registry: GTP cyclohydrolase I deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  2. Sepiapterin reductase deficiency 
    ... on PubMed Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  3. Dopa-responsive dystonia 
    ... in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2): ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics