自闭症和精神病儿童中苯丙酮尿症的检测

Detection of phenylketonuria in autistic and psychotic children.

作者信息

Lowe T L, Tanaka K, Seashore M R, Young J G, Cohen D J

出版信息

JAMA. 1980 Jan 11;243(2):126-8. doi: 10.1001/jama.1980.03300280024022.

DOI:10.1001/jama.1980.03300280024022

Abstract

Sixty-five children with pervasive developmental disturbance (autism and atypical childhood psychosis) were screened by standard urinary amino acid detection testing methods. Three of the children showed abnormalities in these screening tests, leading to the diagnosis of phenylketonuria. This was verified by repeated urinary testing and blood phenylalanine determinations. The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. Urinary genetic screening should be a standard test for all children being evaluated for serious developmental disturbances of childhood.

摘要

采用标准尿氨基酸检测方法对65名广泛性发育障碍（自闭症和非典型儿童期精神病）儿童进行了筛查。其中3名儿童在这些筛查测试中显示异常，最终诊断为苯丙酮尿症。这通过重复的尿液检测和血液苯丙氨酸测定得到了证实。患有苯丙酮尿症的儿童接受了低苯丙氨酸饮食治疗，自治疗以来其功能和发育水平有所改善。尿基因筛查应作为所有接受儿童严重发育障碍评估的儿童的标准检测。