Mira N V, Marquez U M
Faculdade de Ciências Farmacêuticas, Universidade de São Paulo, São Paulo, SP, Brasil.
Rev Saude Publica. 2000 Feb;34(1):86-96. doi: 10.1590/s0034-89102000000100016.
Phenylketonuria is the most common inborn error of amino acid metabolism. It is due to a deficiency of phenylalanine hydroxylase, which normally converts phenylalanine to tyrosine. A diet low in phenylalanine starting in the first month of life can significantly reduce mental retardation, the most important feature of the disease. The aim of the review is to discuss the difficulties found in the diagnosis of PKU and its variants, ranging from classic phenylketonuria to mild hyperphenylalaninaemia, and the effects of dietary restriction of phenylalanine on the growth and development of children. Also, we present the current controversies about the age of discontinuing the dietary treatment. This review summarizes the benefits and problems emerging from a prolonged therapy taking into account dietary compliance in different age groups, and discusses dietary alternatives to the synthetic amino acid mixtures free of phenylalanine, based on low phenylalanine protein hydrolysates. In addition, we show some information about the effects of maternal phenylketonuria on pregnancy outcome and infant development, if exposed to high phenylalanine levels intra uterineo.
苯丙酮尿症是最常见的氨基酸代谢先天性疾病。它是由于苯丙氨酸羟化酶缺乏所致，该酶通常将苯丙氨酸转化为酪氨酸。从出生后第一个月开始食用低苯丙氨酸饮食可显著降低智力发育迟缓，这是该疾病最重要的特征。本综述的目的是讨论在苯丙酮尿症及其变体（从经典苯丙酮尿症到轻度高苯丙氨酸血症）诊断中发现的困难，以及苯丙氨酸饮食限制对儿童生长发育的影响。此外，我们还介绍了目前关于停止饮食治疗年龄的争议。本综述总结了长期治疗在不同年龄组饮食依从性方面产生的益处和问题，并讨论了基于低苯丙氨酸蛋白水解物的不含苯丙氨酸的合成氨基酸混合物的饮食替代方案。此外，我们还展示了一些关于母亲苯丙酮尿症对妊娠结局和婴儿发育的影响的信息，如果婴儿在子宫内暴露于高苯丙氨酸水平的话。
