Tetrahydrobiopterin Responsiveness in a Series of 53 Cases of Phenylketonuria and Hyperphenylalaninemia in Iran Publisher



Setoodeh A¹ ; Yarali B² ; Rabbani A³ ; Khatami S⁴ ; Shams S⁵
Source: Molecular Genetics and Metabolism Reports Published:2015

Abstract

To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 μmol/L), the single dose of 20 mg/kg (Kuvan®) and duration of 24 h was used. Results Among the 4 different categories of mild hyperphenylalaninemia requiring treatment, mild, moderate and classic PKU, the BH4 responders were 90%, 35.7%, 5.6% and 0% respectively after 24 h. Conclusion BH4 responsiveness is more prevalent in mild hyperphenylalaninemia and mild PKU patients in Iran. © 2015 The Authors. Published by Elsevier Inc.