伊朗53例苯丙酮尿症和高苯丙氨酸血症患者的四氢生物蝶呤反应性
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran.
作者信息
Setoodeh Aria, Yarali Bahram, Rabbani Ali, Khatami Shohreh, Shams Sedigheh
机构信息
Division of Pediatric Endocrinology, Children's Medical Center, Tehran, Iran.
Division of Pediatric Neurology, Children's Medical Center, Tehran, Iran.
出版信息
Mol Genet Metab Rep. 2015 Jan 28;2:77-79. doi: 10.1016/j.ymgmr.2015.01.001. eCollection 2015 Mar.
UNLABELLED
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.
未标注
为确定53例不同类型高苯丙氨酸血症和苯丙酮尿症（PKU）患者中6R-四氢生物蝶呤（BH4）反应性苯丙酮尿症的患病率，排除伊朗儿童医学中心的BH4缺乏型（苯丙氨酸360 - 2420μmol/L），使用单剂量20mg/kg（科望®），持续24小时。
结果
在4种不同类型需要治疗的轻度高苯丙氨酸血症、轻度、中度和经典型PKU中，24小时后BH4反应者分别为90%、35.7%、5.6%和0%。
结论
在伊朗，BH4反应性在轻度高苯丙氨酸血症和轻度PKU患者中更为普遍。
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