Henderson H E, Goodman R, Schram J, Diamond E, Daneel A
S Afr Med J. 1981 Nov 7;60(19):731-3.
A biochemical screening programme for the detection of inherited metabolic disease was carried out on urine and blood samples from inmates of the Alexandra Institute for the mentally retarded, Cape Town. Of the 1087 patients screened, positive results for phenylketonuria were obtained in 3, for cystinuria in 2 and for Hartnup disease in 1. The overall frequency of metabolic disorders was 0,6%. It is evident that genetic metabolic disease as detected by current screening procedures makes only a small contribution to the overall burden of mental retardation.
针对开普敦亚历山德拉智障研究所收容人员的尿液和血液样本，开展了一项用于检测遗传性代谢疾病的生化筛查项目。在接受筛查的1087名患者中，苯丙酮尿症检测呈阳性的有3例，胱氨酸尿症检测呈阳性的有2例，哈特纳普病检测呈阳性的有1例。代谢紊乱的总体发生率为0.6%。显然，通过当前筛查程序检测出的遗传代谢疾病在智障的总体负担中所占比例很小。
