Neonatal Screening for Inborn Errors of Metabolism

ISBN-13: 9783642674907 / Angielski / Miękka / 2011 / 348 str.

H. Bickel; R. Guthrie; G. Hammersen

Opis

Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy."

Spis treści

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.