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Results 1 - 6 of 6 for GTP cyclohydrolase I deficiency
  1. GCH1 gene 
    ... by GCH1 gene mutations, it is known as GTP cyclohydrolase 1 (GTPCH1) deficiency. GTPCH1 deficiency accounts for about 4 percent of ... 1605. 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/gene/gch1 - Genetics
  2. Tetrahydrobiopterin deficiency 
    ... alpha-carbinolamine dehydratase 1 deficiency Genetic Testing Registry: GTP cyclohydrolase I deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency National Organization for ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - 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 
    ... 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
  6. PCBD1 gene 
    ... Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine- ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics