Diagnosis and Treatment of Sepiapterin Reductase Deficiency

Abstract

The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.

Keywords

• sepiapterin reductase deficiency
• homozygous mutation
• encephalopathy