Division of Clinical Genetics, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):23-6. doi: 10.1016/j.ymgme.2011.05.007. Epub 2011 May 14.
Recent reviews have suggested that some patients with "non-PKU mild hyperphenylalaninemia" (MHP) might display neuropsychological executive function deficits and should be considered for treatment with tetrahydrobipterin (BH4) and/or phenylalanine (Phe) restricted diet. Patients with phenylketonuria (PKU)--Classical and Mild/Atypical variants--appear to need "mean lifetime phenylalanine (Phe) levels" of 120-360 μmol/L for optimal results. MHP patients, on the other hand, have natural Phe levels of 200-600 μmol/L. Until recently this was thought to be a benign condition. The available literature has been reviewed in detail and no good evidence, to date, has been uncovered to support treatment of MHP. It is suggested that more MHP subjects be tested to confirm this. A plea is made to formulate a consistent world-wide classification of the PKU phenotypes.
最近的评论表明，一些患有“非苯丙酮尿症轻度高苯丙氨酸血症”（MHP）的患者可能表现出神经心理执行功能缺陷，应考虑使用四氢生物蝶呤（BH4）和/或限制苯丙氨酸（Phe）饮食进行治疗。苯丙酮尿症（PKU）患者——经典型和轻度/非典型变异型——似乎需要“平均终身苯丙氨酸（Phe）水平”为 120-360 μmol/L 才能获得最佳结果。另一方面，MHP 患者的天然 Phe 水平为 200-600 μmol/L。直到最近，人们还认为这是一种良性疾病。详细审查了现有文献，但迄今为止，尚未发现支持治疗 MHP 的良好证据。有人建议对更多的 MHP 患者进行测试以确认这一点。有人呼吁制定一个统一的全球 PKU 表型分类法。
