Watts R W, Chalmers R A, Lawson A M
Lancet. 1975 Feb 15;1(7903):368-72. doi: 10.1016/s0140-6736(75)91281-7.
Urine specimens from 1778 mentally retarded patients and 420 age and sex matched non-retarded controls selected from a general practice have been analysed for non-amino organic acids by a quantitative extraction and gas chromatographic method. The compounds were identified by combined gas chromatography and mass spectrometry. Approximately 5% of the patients had an abnormal organic aciduria. The frequency of abnormalities was slightly higher (about 7%) in a group of 248 severely subnormal children, but not in cases with a family history of mental retardation, retarded sibs, or whose parents were consanguineous. The most frequently observed abnormalities were phenylalanine metabolites in cases of phenylketonuria (about 1%), increased excretion of benzoic acid (about 1%), and increased excretion of 2-oxoglutaric acid with or without raised urinary citric-acid levels (about 1%). The biochemical and clinical significance of these findings is being further investigated.
采用定量萃取和气相色谱法，对从一家普通诊所选取的1778例智障患者以及420例年龄和性别匹配的非智障对照者的尿液标本进行了非氨基酸有机酸分析。通过气相色谱和质谱联用对化合物进行鉴定。约5%的患者存在异常有机酸尿症。在一组248例严重智力发育迟缓儿童中，异常频率略高（约7%），但在有智障家族史、智障同胞或父母近亲结婚的病例中未出现这种情况。最常观察到的异常情况为苯丙酮尿症病例中的苯丙氨酸代谢产物（约1%）、苯甲酸排泄增加（约1%）以及2-氧代戊二酸排泄增加，伴或不伴有尿柠檬酸水平升高（约1%）。这些发现的生化及临床意义正在进一步研究中。
