Sepiapterin reductase deficiency
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs104893665 | 3 |
| rs104893666 | 3 |
| rs121917746 | 3 |
| rs121917747 | 3 |
| rs387907200 | 3 |
| rs398122922 | 3 |
| rs587776777 | 3 |
Caused by certain recessively inherited mutations in the SPR gene, sepiapterin reductase deficiency is a rare condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.GHR
Most patients with SPR deficiency show significant improvement with L-DOPA treatment or in some cases, 5-hydroxytryptophan.Gene Reviews
