残疾儿童的氨基酸尿症：一项使用离子交换色谱法作为筛查试验的研究。

Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test.

作者信息

Redford-Ellis M, Gibbs A C, Haider S A, Holzel A

出版信息

Lancet. 1981 Jul 4;2(8236):10-5. doi: 10.1016/s0140-6736(81)90252-x.

Abstract

The aminoacid excretion levels of 59 normal and 75 physically and/or mentally handicapped children were measured with ion-exchange chromatography. A computer-assisted statistical analysis of the results from the normal population was used to calculate an approximating frequency distribution. 18 patients were found to be excreting one or more aminoacids above the normal 99.75th or 100th percentiles. They included 1 with dibasic aminoaciduria; 1 six-year-old with phenylketonuria; 1 with hyperphenylalaninuria; 5 with cystathioninuria; 2 with hyperglycinuria; 1 with hyperglycinuria and hypertaurinuria; 5 with hypertaurinuria; 1 excreting high levels of taurine, serine, tyrosine, and histidine, and 1 with asparaginuria.

摘要

采用离子交换色谱法测定了59名正常儿童和75名身体和/或智力残疾儿童的氨基酸排泄水平。利用计算机辅助对正常人群的结果进行统计分析，以计算近似频率分布。发现18名患者排泄的一种或多种氨基酸高于正常第99.75或第100百分位数。其中包括1例二元氨基酸尿症患者；1例6岁苯丙酮尿症患儿；1例高苯丙氨酸尿症患者；5例胱硫醚尿症患者；2例高甘氨酸尿症患者；1例高甘氨酸尿症合并高牛磺酸尿症患者；5例高牛磺酸尿症患者；1例排泄高水平牛磺酸、丝氨酸、酪氨酸和组氨酸的患者，以及1例天冬酰胺尿症患者。