Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.
Mol Genet Metab. 2012 Jul;106(3):264-8. doi: 10.1016/j.ymgme.2012.04.016. Epub 2012 Apr 25.
Until today, the mainstay of phenylketonuria (PKU) treatment is a phenylalanine (Phe)-restricted diet. Strict dietary treatment decreases flexibility and autonomy and still has a major impact on patients and their families. Compliance is often poor, particularly in adolescence. The aim of this study was to investigate the effect of the intake of fruits and vegetables containing Phe less than 100 mg/100g ('simplified diet'), as recommended by WHO for all individuals, instead of classical totally restricted diet on the course and treatment control of the disease in a well-characterized PKU cohort (n=80). All individual blood Phe measurements of each patient (1992-2009) were statistically analyzed before and after diet switch. Epidemiological data, age at diagnosis, PAH mutations, BH(4) responsiveness, as well as Phe control measurements and detailed diet information were tabulated in a local database. 62.5% had BH4 loading test and 40% had PAH analysis; 50/80 switched from classical to simplified diet, including 26 classical PKU, 13 moderate PKU, 7 mild PKU and 4 mild hyperphenylalaninemia (HPA). Median Phe levels on a simplified diet did not differ significantly to the median Phe levels on classical diet in all disease groups. Our results indicate that a simplified diet has no negative effect on blood Phe control in patients with hyperphenylalaninemia, independent of severity of the phenotype or the age at diet switch, over the period of 3 years. Thus, a simpler approach to dietary treatment of PKU available to all HPA patients is more likely to be accepted and adhered by patients and might also increase quality of life.
直到今天，苯丙酮尿症（PKU）治疗的主要方法还是限制苯丙氨酸（Phe）的饮食。严格的饮食治疗降低了灵活性和自主性，仍然对患者及其家庭有重大影响。依从性往往很差，尤其是在青春期。本研究旨在调查按照世界卫生组织（WHO）的建议，所有个体摄入 Phe 含量低于 100mg/100g 的水果和蔬菜（“简化饮食”），而不是经典的完全限制饮食，对明确的 PKU 队列（n=80）疾病的进程和治疗控制的影响。统计分析了每个患者（1992-2009 年）的所有个体血 Phe 测量值，在饮食转换前后。流行病学数据、诊断年龄、PAH 突变、BH4 反应性，以及 Phe 控制测量值和详细的饮食信息都在本地数据库中进行了列表。62.5%的患者进行了 BH4 负荷试验，40%的患者进行了 PAH 分析；80 例患者中有 50 例从经典饮食转换为简化饮食，其中包括 26 例经典 PKU、13 例中度 PKU、7 例轻度 PKU 和 4 例轻度高苯丙氨酸血症（HPA）。简化饮食组的血 Phe 中位数与经典饮食组的血 Phe 中位数在所有疾病组中均无显著差异。我们的结果表明，在 3 年内，简化饮食对高苯丙氨酸血症患者的血 Phe 控制没有负面影响，与表型严重程度或饮食转换年龄无关。因此，一种更简单的 PKU 饮食治疗方法，适用于所有 HPA 患者，更有可能被患者接受和坚持，也可能提高生活质量。
