Application of GC/MS chemical diagnosis to neonatal mass screening

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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 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.). So far, 2,953 samples were tested by us in kanazawa, and 4 cases were chemically diagnosed as having metabolic disorders. Methylmalonic aciduria, cystinuria (3 cases). The rate of incidence was 1 per 738. Also, 68 cases were found to have transient metabolic abnormalities ; 91 cases with transient neonatal galactosuria, 11 cases with transient neonatal tyrosinuria. We believe this program can also offer valuable information on human genetics.