Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (DRDSPRD)

Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency, also known as sepiapterin reductase deficiency, is related to hyperphenylalaninemia, bh4-deficient, a and segmental dystonia, 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 Zolpidem and Alprazolam have been mentioned in the context of this disorder. Affiliated tissues include eye and thyroid, and related phenotypes are intellectual disability and hyperreflexia