The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency

This study aimed to evaluate the biochemical factors, genetic mutations, outcome of treatment, and clinical follow-up data of Iranian patients with tetrahydrobiopterin (BH4) deficiency from April/2016 to March/2020.Forty-seven BH4 deficiency patients were included in the study and underwent biochemical and genetic analyses. The clinical outcomes of the patients were evaluated after long-term treatment.Out of the 47 (25 females and 22 males) BH4...