Neonatal Screening for Inborn Errors of Metabolism

1. Front Matter

   Pages I-XVII

   PDF

2. Rationale of Neonatal Screening for Inborn Errors of Metabolism

   1. Rationale of Neonatal Screening for Inborn Errors of Metabolism

      • H. Bickel

      Pages 1-6

3. Screening for Hereditary Metabolic Disorders

   1. Screening for Phenylketonuria

      • A. M. O. Veale

      Pages 7-18

   2. Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

      • E. W. Naylor

      Pages 19-28

   3. Homocystinuria and Other Methioninemias

      • D. H. H. Pullon

      Pages 29-44

   4. Screening for Disorders of Tyrosine Metabolism

      • S. Halvorsen

      Pages 45-57

   5. Neonatal Screening for Histidinemia

      • O. Thalhammer

      Pages 59-66

   6. Newborn Screening for Inherited Disorders of Galactose Metabolism

      • R. Gitzelmann

      Pages 67-79

   7. Neonatal Screening for Cystic Fibrosis

      • U. Stephan

      Pages 81-87

   8. Newborn Urine Screening

      • H. L. Levy, J. T. Coulombe, V. E. Shih

      Pages 89-103

   9. Neonatal Screening for Organic Acidurias

      • R. W. E. Watts

      Pages 105-121

   10. Significance and Need of Screening for Hyperlipidemia in Childhood

       • D. Seidel, H. Wieland

       Pages 123-131

   11. Screening for Hemoglobinopathies (Thalassemias and Other Abnormal Hemoglobins)

       • C. Kattamis

       Pages 133-147

   12. Screening for Glucose-6-Phosphate Dehydrogenase Deficiency and Other Erythrocyte Enzyme Defects

       • W. Schröter

       Pages 149-154

   13. Neonatal Screening for Muscular Dystrophy

       • R. Beckmann, J. M. Robert, H. Zellweger, L. Beubl, C. Dellamonica, G. Scheuerbrandt

       Pages 155-166

4. Neonatal Screening for Congenital Hypothyroidism

   1. Screening for Congenital Hypothyroidism: 4 Years of Experience

      • J. H. Dussault, J. Letarte, H. Guyda

      Pages 167-178

   2. Neonatal Screening for Hypothyroidism by TSH Determination in Dried Blood

      • R. Illig

      Pages 179-189

   3. Experience with Primary Thyrotropin (TSH) Screening for Congenital Hypothyroidism in Pittsburgh, Pa.

      • T. P. Foley Jr., A. H. Klein, B. Foley, A. V. Augustin, H. M. MacDonald, N. J. Hopwood et al.

      Pages 191-197

   4. Neonatal Screening for Hypothyroidism in Brussels

      • F. Delange, P. Bourdoux, A.-M. Ermans

      Pages 199-205

   5. Results of the Toronto Regionalized Screening Program for Detecting Neonatal Hypothyroidism

      • P. G. Walfish, J. Ginsberg, N. J. Howard

      Pages 207-217

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.

• Erbkrankheit
• Errors
• Hypothyreose
• Kleinkindervorsorge
• Neugeborenenerkrankung
• Stoffwechselkrankheit
• child
• hormones
• pediatrics

• Universitäts-Kinderklinik, Heidelberg, Germany

  Horst Bickel, Gerhard Hammersen

• Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Buffalo, USA

  Robert Guthrie

Policies and ethics