饮食治疗的苯丙酮尿症儿童脑损伤

Brain Damage in Children With Dietetically Treated Phenylketonuria

经过早期严格低苯丙氨酸饮食控制的苯丙酮尿症儿童 ,血苯丙氨酸水平控制在 36 0～ 40 0 μmol L之间 ,智力水平可接近正常 ,但仍可能出现智力发育的不平衡 ;PKU儿童的认知损伤目前多认为是额叶功能特异性损伤 ,如记忆、注意力及执行功能的损伤 ;在行为问题上多表现为内向型行为问题 ,但男女可能存在有差异 ;脑磁共振成像(MRI)异常表现为白质病变 ,MRI的异常表现与血Phe水平及脑Phe水平可能存在关系 ,但仍有争议。

The intellectual level of children with phenylketonuria(PKU) who have received early restrict low phenylalanine (Phe) diet may approach to normal if the serum Phe level maitains between 360?μmol·L -1 and 400?μmol·L -1 in early and middle childhood, but they still show an imbalance in intelligence development. At present, it is considered that cognitive deficts of children with PKU are due to the specific impairement of functions of the frontal lobe such as memory, attention and executive functions. On behavioral disorders, children with PKU are more prone to have introverted behaviour problems and there may be difference between both sexes. Cranial MRI reveals abnormalities in the white matter in children with PKU. Abnormalities on MRI maybe correlated with the blood and brain Phe concentrations, for which there is still a controversy now.