Neonatal Screening for Inborn Errors of Metabolism

Rationale of Neonatal Screening for Inborn Errors of Metabolism.- Screening for Hereditary Metabolic Disorders.- Screening for Phenylketonuria.- Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria).- Homocystinuria and Other Methioninemias.- Screening for Disorders of Tyrosine Metabolism.- Neonatal Screening for Histidinemia.- Newborn Screening for Inherited Disorders of Galactose Metabolism.- Neonatal Screening for Cystic Fibrosis.- Newborn Urine Screening.- Neonatal Screening for Organic Acidurias.- Significance and Need of Screening for Hyperlipidemia in Childhood.- Screening for Hemoglobinopathies (Thalassemias and Other Abnormal Hemoglobins).- Screening for Glucose-6-Phosphate Dehydrogenase Deficiency and Other Erythrocyte Enzyme Defects.- Neonatal Screening for Muscular Dystrophy.- Neonatal Screening for Congenital Hypothyroidism.- Screening for Congenital Hypothyroidism: 4 Years of Experience.- Neonatal Screening for Hypothyroidism by TSH Determination in Dried Blood.- Experience with Primary Thyrotropin (TSH) Screening for Congenital Hypothyroidism in Pittsburgh (Pa.).- Neonatal Screening for Hypothyroidism in Brussels.- Results of the Toronto Regionalized Screening Program for Detecting Neonatal Hypothyroidism.- Experience with the Application of a Dried Blood Thyrotropin (TSH) Method for Neonatal Hypothyroidism Screening: Comparative Studies Between Double-Antibody and Solid Phase Radioimmunoassays.- Methodologie Limitations on the Measurement of Thyroxine from Small Dried Blood Discs: Comparison of Double-Antibody and Solid Phase Radioimmunoassays.- Summary of the Northwest Regional Hypothyroidism Screening Program.- Mass Screening for Neonatal Hypothyroidism in Japan.- Addendum.- Neonatal Screening Programs: Organization, Legislation, Methodologie Pitfalls, and Quality Control.- Introductory Remarks.- Organization of a Regional Newborn Screening Laboratory.- Medical Backup Needed for Newborn Metabolic Screening Programs.- Regionalization of Metabolic Screening Laboratories.- Structure of the System Required to Handle Problems in the European Community Related to Inborn Errors of Metabolism.- Organization and Legislative of Screening in Belgium.- Organization of Screening Laboratories.- Pitfalls in the Microbiologic Assay of Amino Acids in Screening Laboratories.- Quality Control Trial in a Screening Laboratory.- System of Neonatal Screening for Inbom Errors of Metabolism in Japan.- Organization of Screening Data on Computer.- Use of a Computer in a Screening Program.- Recommendations for and Future Aspects of Screening.- Recommendations for Newborn Screening.- Predictive Medicine: a Goal for Genetic Screening.