title: [Mass Screening for Inborn Errors of Metabolism].
abstract: Neonatal mass screening is a project aiming at the prevention of disorders by discovering and treating diseases which damage health left untreated in all newborns. The bacterial inhibition assay (BIA) was developed in about .1961 and used as the Guthrie method for a long time, but it was replaced by tandem mass spectrometry due to the recent development of mass spectrometers, and its nationwide introduction in Japan was completed. With this introduction, 13 diseases were newly included in screening. Fatty acid and organic acid metabolic disorders and urea cycle disorders were included, and favorable results have been obtained.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Ito
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000378:metabolism; D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D019748:Carbon-Carbon Double Bond Isomerases / Q000378:metabolism; D000080984:Congenital Bone Marrow Failure Syndromes; D004746:Enoyl-CoA Hydratase / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D008403:Mass Screening / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000517:prevention & control* / Q000628:therapy; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000628:therapy; D009135:Muscular Diseases / Q000175:diagnosis / Q000628:therapy; D019998:Racemases and Epimerases / Q000378:metabolism; D053719:Tandem Mass Spectrometry / Q000295:instrumentation / Q000379:methods; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis
chemical_list: D005227:Fatty Acids; C038784:fatty acid oxidation complex; D015094:3-Hydroxyacyl CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D000102:Acetyl-CoA C-Acyltransferase; D004746:Enoyl-CoA Hydratase; D019998:Racemases and Epimerases; D019748:Carbon-Carbon Double Bond Isomerases