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Results 1 - 8 of 8 for Sepiapterin reductase deficiency
  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 
    ... not occur in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain, ... the SPR gene have been found to cause sepiapterin reductase deficiency, a condition characterized by progressive problems with movement. ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  3. Dopa-responsive dystonia 
    ... Genetic Testing Registry: Dopa-responsive dystonia due to sepiapterin reductase deficiency Genetic Testing Registry: Dystonia 5 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  4. GCH1 gene 
    ... diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct;74(1- ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  5. PTS gene 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, ... synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  6. Tetrahydrobiopterin deficiency 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, ... synthase deficiency. J Inherit Metab Dis. 2006 Feb;29(1): ...
    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 Mutat. ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics
  8. PCBD1 gene 
    ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics