Beatrix Children's Hospital, Groningen, Netherlands.
J Inherit Metab Dis. 2011 Jun;34(3):651-6. doi: 10.1007/s10545-011-9283-y. Epub 2011 Feb 24.
One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literature on the outcome of untreated patients with mild hyperphenylalaninemia to try to determine whether outcome is normal. The paper concludes that there is, in fact, only one paper that can be used to answer this question. Therefore, the question is whether we may rely on one paper to draw conclusions or whether more research is necessary to determine whether all patients with phenylalanine concentrations >360 μmol/L or all patients with phenylalanine concentrations >600 μmol/L require treatment.
苯丙酮尿症需要解决的问题之一是轻度高苯丙氨酸血症患者是否需要治疗，换句话说，就是在什么情况下需要开始治疗。当血液中的苯丙氨酸浓度>360μmol/L 或>600μmol/L 时，患者是否需要治疗？本文综述了未经治疗的轻度高苯丙氨酸血症患者的结局相关文献，试图确定结局是否正常。文章得出的结论是，实际上只有一篇文献可以用来回答这个问题。因此，问题是我们是否可以仅凭一篇文献得出结论，还是需要更多的研究来确定所有苯丙氨酸浓度>360μmol/L 的患者还是所有苯丙氨酸浓度>600μmol/L 的患者都需要治疗。
