A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates.

Background: Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.

Aims: To describe clinical, biochemical, molecular genetic data and follow-up of patients with BH4 deficiency seen in Tawam Hospital.