Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 2, Issue -, Pages 77-79Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2015.01.001
Keywords
Phenylketonuria; Hyperphenylalaninemia; Sapropterin; Tetrahydrobiopterin; Kuvan (R)
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To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patientswith various classification of hyperphenylalaninemia and PKUExcluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 mu mol/L), the single dose of 20 mg/kg (Kuvan (R)) 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 ismore prevalent in mild hyperphenylalaninemia and mild PKU patients in Iran. (C) 2015 The Authors. Published by Elsevier Inc.
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