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

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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.