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Results 1 - 3 of 3 for Sepiapterin
  1. Sepiapterin reductase deficiency 
    Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  2. Dopa-responsive dystonia 
    ... SPR gene, which provides instructions for making the sepiapterin reductase enzyme, is involved in the last step ... Genetic Testing Registry: Dopa-responsive dystonia due to sepiapterin reductase deficiency Genetic Testing Registry: Dystonia 5 Genetic ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  3. Tetrahydrobiopterin deficiency 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics