Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

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 
    The PCBD1 gene provides instructions for making an enzyme called pterin-4 alpha-carbinolamine dehydratase. This enzyme helps carry out one step in the chemical ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  4. QDPR gene 
    The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics