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Results 1 - 4 of 4 for GTP cyclohydrolase I deficiency with hyperphenylalaninemia
  1. GCH1 gene 
    ... dopa-responsive dystonia) GTPCH1 Tests of GCH1 PubMed GTP CYCLOHYDROLASE I; GCH1 NCBI Gene ClinVar Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  2. PTS gene 
    ... from GTP to tetrahydrobiopterin: three-dimensional structures of GTP cyclohydrolase I and ... synthase deficiency. Eur J Pediatr. 2001 May;160(5):267- ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  3. PCBD1 gene 
    ... Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine- ... dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet. 1998 Aug;103(2):162-7. ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  4. QDPR gene 
    ... Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine- ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics