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经治疗的苯丙酮尿症患者苯丙氨酸摄入量实验性调控的神经心理学结果

Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria.

作者信息

Griffiths P, Ward N, Harvie A, Cockburn F

机构信息

Department of Psychology, University of Stirling, UK.

出版信息

J Inherit Metab Dis. 1998 Feb;21(1):29-38. doi: 10.1023/a:1005307229813.

DOI:10.1023/a:1005307229813
PMID:9501267
Abstract

Blood phenylalanine concentrations were experimentally increased for 3 months by means of a phenylalanine-complemented amino acid supplement in a group of 16 children aged 10-16 years with classical phenylketonuria who had been treated early and who had remained on the restricted diet. Average concentrations achieved during challenge were between 1000 and 1300 mumol/L. Psychological outcome was measured by a neuropsychological battery consisting of tests of verbal and spatial memory, attention and fine motor coordination. A triple-blind, repeated measures, randomized, crossover design was adopted to control for practice and expectancy effects. Subjects were assessed at baseline and at the end of the first and second phenylalanine manipulation periods. Significant interactions (ANOVA) emerged as predicted for phenylalanine concentrations, but similar crossover effects were not found for any of the neuropsychological tests. The results suggested that medium-term hyperphenylalaninaemia in treated PKU is not harmful to psychological functioning in older children and adolescents who have been continuously treated up to and beyond age 10 years, though the susceptibility of executive functions needs to be further researched. The findings add some weight to the idea that by late childhood the vulnerability of the nervous system to the neurotoxic influence of phenylalanine may be much reduced.

摘要

在一组16名年龄在10至16岁、患有典型苯丙酮尿症且早期接受过治疗并一直坚持限制饮食的儿童中,通过补充含苯丙氨酸的氨基酸补充剂,使血苯丙氨酸浓度在实验中升高了3个月。激发期间达到的平均浓度在1000至1300μmol/L之间。心理结果通过一套神经心理测试进行测量,这套测试包括言语和空间记忆、注意力以及精细运动协调能力的测试。采用三盲、重复测量、随机、交叉设计来控制练习和期望效应。在基线以及第一个和第二个苯丙氨酸操纵期结束时对受试者进行评估。正如预期的那样,出现了苯丙氨酸浓度的显著交互作用(方差分析),但在任何神经心理测试中均未发现类似的交叉效应。结果表明,对于10岁及10岁以后持续接受治疗的大龄儿童和青少年,经治疗的苯丙酮尿症患者的中期高苯丙氨酸血症对心理功能无害,不过执行功能的易感性需要进一步研究。这些发现进一步支持了这样一种观点,即到儿童晚期,神经系统对苯丙氨酸神经毒性影响的易损性可能会大大降低。

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