Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
DOI: 10.1016/j.ymgmr.2015.01.001
Title: Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
Journal Title: Molecular Genetics and Metabolism Reports
Volume: 2
Publication Date: March 2015
Start Page: 77
End Page: 79
Published online: online 28 January 2015
ISSN: 2214-4269
Affiliations:

  • a Division of Pediatric Endocrinology, Children's Medical Center, Tehran, Iran

  • b Division of Pediatric Neurology, Children's Medical Center, Tehran, Iran

  • c Growth and Development Center, Children's Medical Center, Tehran, Iran

  • d Division of Biochemistry, Pasteur Institute, Tehran, Iran

  • e Division of Pathology, Children's Medical Center, Tehran, Iran
  • Abstract: mine 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.ResultsAmong 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.ConclusionBH4 responsiveness is more prevalent in mild hyperphenylalaninemia and mild PKU patients in Iran.
    Accepted: 11 January 2015
    Received: 7 December 2014
    Revised: 11 January 2015
    Result: 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.ConclusionBH4 responsiveness is more prevalent in mild hyperphenylalaninemia and mild PKU patients in Iran.
    Email: arset59@yahoo.com

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