Sepiapterin Reductase Deficiency

About the Disease
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency, also known as sepiapterin reductase deficiency, is related to segmental dystonia and segawa syndrome, autosomal recessive, and has symptoms including lethargy, neurobehavioral manifestations and psychomotor skills impaired. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Promethazine and Zolpidem have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and kidney, and related phenotypes are intellectual disability and hyperreflexia

Common Targets
SPR

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