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Results 1 - 6 of 6 for GTP cyclohydrolase I deficiency with hyperphenylalaninemia
  1. Tetrahydrobiopterin deficiency 
    ... alpha-carbinolamine dehydratase 1 deficiency Genetic Testing Registry: GTP cyclohydrolase I deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency National Organization for Rare ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  2. 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
  3. Dopa-responsive dystonia 
    ... 0a. Citation on PubMed Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  4. 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
  5. 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
  6. 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