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

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. Front Matter....Pages i-x Front Matter....Pages 1-1 The need for a national policy for the management of inherited metabolic disease....Pages 3-20 Genetic screening and allied services: structure, process and objective....Pages 21-42 Front Matter....Pages 43-43 The role of the paediatrician....Pages 45-50 Management of dietary treatment in the home....Pages 51-61 Residential management....Pages 63-78 Front Matter....Pages 79-79 Parent reaction to medical care and screening....Pages 81-91 Screening for Tay—Sachs Disease....Pages 93-101 Genetic counselling clinics....Pages 103-117 The coming of the second genetic code: eugenic abortion in the United Kingdom....Pages 119-139 Front Matter....Pages 141-141 The basis for prescriptive screening....Pages 143-148 Resources for nutritional treatment: basic principles and a national ‘Food Bank’....Pages 149-165 Detection of heterozygotes....Pages 167-196 Prenatal diagnosis....Pages 197-215 The phenylketonuria register for the United Kingdom....Pages 217-224 Computerized central registers....Pages 225-246 Mechanized storage and retrieval of information....Pages 247-258 Computer-aided diagnosis of inherited metabolic disease....Pages 259-271 Front Matter....Pages 273-274 The biochemical autopsy: a tool for studies of genetically-determined brain disorders....Pages 275-300 Back Matter....Pages 301-310