Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Sepiapterin reductase deficiency is a rare genetic disorder affecting neurotransmitter production, leading to symptoms like cognitive impairment, dystonia, and dopa-responsive parkinsonism. This condition results from mutations in the SPR gene, reducing sepiapterin reductase enzyme activity. Early diagnosis and treatment significantly improve outcomes for individuals with sepiapterin reductase deficiency.