Medico-Social Management of Inherited Metabolic Disease

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

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.

• development
• metabolic disease
• metabolism
• newborn
• nutrition

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

  D. N. Raine

Policies and ethics