Question: How many people are affected by sepiapterin reductase deficiency ?
Answer: Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature.
Source: GHR

Question: Is sepiapterin reductase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for sepiapterin reductase deficiency ?
Answer: These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR