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Results 1 - 4 of 4 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. 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. 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
  4. 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