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Results 1 - 2 of 2 for GTP cyclohydrolase I deficiency
  1. 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
  2. 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