Results 1 - 10 of 10 for Sepiapterin
  1. Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. ...
  2. 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- ...
  3. ... 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 ...
  4. ... 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 ...
  5. Dystonia (National Library of Medicine)  
    Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes ...
  6. ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
  7. Movement Disorders (National Library of Medicine)  
    Movement disorders are neurologic conditions that cause problems with movement, such as Increased movement that can be voluntary (intentional) or involuntary (unintended) ...
  8. ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
  9. ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
  10. ... diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct; ...