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Medico-Social Management of Inherited Metabolic Disease

A Monograph Derived from The Proceedings of the Thirteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

  • Conference proceedings
  • © 1977

Overview

Editors:
  1. D. N. Raine

    1. Department of Clinical Chemistry, The Children’s Hospital, Birmingham, UK

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Table of contents (18 papers)

  1. Front Matter

    Pages i-x
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  2. The Nature and Size of the Problem

    1. Front Matter

      Pages 1-1
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    2. The need for a national policy for the management of inherited metabolic disease

      • D. N. Raine
      Pages 3-20

    3. Genetic screening and allied services: structure, process and objective

      • C. R. Scriver, C. Laberge, Carol L. Clow
      Pages 21-42

  3. Present Methods of Management

    1. Front Matter

      Pages 43-43
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    2. The role of the paediatrician

      • G. M. Komrower
      Pages 45-50

    3. Management of dietary treatment in the home

      • Christine Clothier
      Pages 51-61

    4. Residential management

      • Erik Wamberg
      Pages 63-78

  4. Community Reaction to Present Practice

    1. Front Matter

      Pages 79-79
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    2. Parent reaction to medical care and screening

      • Elsie D. May
      Pages 81-91

    3. Screening for Tay—Sachs Disease

      • P. R. Evans
      Pages 93-101

    4. Genetic counselling clinics

      • Valerie A. Cowie
      Pages 103-117

    5. The coming of the second genetic code: eugenic abortion in the United Kingdom

      • Gary A. Ratner
      Pages 119-139

  5. Aspects of Management Requiring Central Policy

    1. Front Matter

      Pages 141-141
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    2. The basis for prescriptive screening

      • T. W. Meade
      Pages 143-148

    3. Resources for nutritional treatment: basic principles and a national ‘Food Bank’

      • Carol L. Clow, C. R. Scriver
      Pages 149-165

    4. Detection of heterozygotes

      • A. Westwood
      Pages 167-196

    5. Prenatal diagnosis

      • A. D. Patrick
      Pages 197-215

    6. The phenylketonuria register for the United Kingdom

      • F. P. Hudson, Janet Hawcroft
      Pages 217-224

    7. Computerized central registers

      • A. J. Hedley
      Pages 225-246
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Keywords

About this book

The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis­ covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King­ dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.

Editors and Affiliations

  • Department of Clinical Chemistry, The Children’s Hospital, Birmingham, UK

    D. N. Raine

Bibliographic Information

  • Book Title: Medico-Social Management of Inherited Metabolic Disease

  • Book Subtitle: A Monograph Derived from The Proceedings of the Thirteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

  • Editors: D. N. Raine

  • DOI: https://doi.org/10.1007/978-94-011-6173-2

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: The Society for the Study of Inborn Errors of Metabolism 1977

  • Softcover ISBN: 978-94-011-6175-6Published: 12 March 2012

  • eBook ISBN: 978-94-011-6173-2Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: X, 310

  • Topics: Pediatrics, Internal Medicine

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