ABSTRACT

Moderate hyperphenylalaninemia (mHPA) is a hydroxylase deficiency corresponding to phenylalanine levels, at newborn screening, below 360 μmol/l. The neurological impact of mHPA is usually considered to be very low, but few studies have investigated the neuropsychological profile of mHPA patients.A systematic review of the neuropsychological aspects of mHPA was therefore conducted.The results showed a preservation of cognitive functions (intelligence, memory, visuoperception…). However, several indicators point to executive difficulties in this population. In regard to the important impact of executive functions in daily life, it is essential to conduct other studies in mHPA patients by proposing an integrative approach.

摘要

中度高苯丙氨酸血症 (mHPA) 是一种羟化酶缺乏症，对应于苯丙氨酸水平，新生儿筛查时苯丙氨​​酸水平低于 360 μmol/l。mHPA 的神经学影响通常被认为非常低，但很少有研究调查 mHPA 患者的神经心理特征。因此对 mHPA 的神经心理学方面进行了系统回顾。结果显示认知功能（智力、记忆, 视觉感知……)。然而，一些指标表明这一人群存在执行困难。关于执行功能在日常生活中的重要影响，有必要通过提出综合方法对 mHPA 患者进行其他研究。