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Results 1 - 8 of 8 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. SPR gene 
    The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the ... first and second steps in this process. The sepiapterin reductase enzyme converts a molecule called 6-pyruvoyl- ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  3. PTS gene 
    ... pyruvoyl-tetrahydropterin synthase PTP synthase PTPS PTPS_HUMAN sepiapterin synthase A sepiapterin synthesizing enzyme 1 Tests of PTS PubMed 6- ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  4. 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
  5. PCBD1 gene 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  6. 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
  7. QDPR gene 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics
  8. GCH1 gene 
    ... diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct; ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics