Development of automated GC/MS system for chemical diagnosis of inherited metabolic disorders

​横河分析系统公司)。本项目由日本生物医学质谱学会和日本质量筛查学会支持。到目前为止，这些研究所对11919个样本进行了检测，其中8例被化学诊断为患有代谢紊乱。-酮己二酸尿、甲基丙二酸尿、哈特纳普病、胱氨酸尿（3例）、甘油尿和瓜氨酸血症；后2例由库鲁姆大学研究小组发现。发病率为1 / 1490。106例发现有短暂性代谢异常；新生儿短暂性半乳尿91例，新生儿短暂性酪氨酸尿15例。我们相信这个项目也可以提供有关人类遗传学的宝贵信息。

By using the newly developed diagnostic procedure for inborn errors of metabolism, a pilot study of its application to newborn mass screening for 22 (at present, and will be increased) metabolic diseases was started in Japan on February 1,1995 in cooperation with four medical institutes (Kanazawa Medical University, Kurume University School of Medicine, Shimane Medical University, and Chiba Children's Hospital) and three instrument manufacturers (Shimadzu Seisakusho Ltd., JEOL Ltd., and Yokogawa Analytical Systems Inc.). This program is supported by the Japanese Society for Biomedical Mass Spectrometry and the Japanese Mass Screening Society. So far, 11,919 samples were tested by these institutes, and 8 cases were chemically diagnosed as having metabolic disorders. alpha-ketoadipic aciduria, methylmalonic aciduria, Hartnup disease, cystinuria (3 cases), glyceroluria and citrullinemia ; the latter 2 cases were found by Kurume University group. The rate of incidence was 1 per 1,490. Also, 106 cases were found to have transient metabolic abnormalities ; 91 cases with transient neonatal galactosuria, 15 cases with transient neonatal tyrosinuria. We believe this program can also offer valuable information on human genetics.