Description
Book SynopsisThe 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.
Table of ContentsThe Nature and Size of the Problem.- 1 The need for a national policy for the management of inherited metabolic disease.- 2 Genetic screening and allied services: structure, process and objective.- Present Methods of Management.- 3 The role of the paediatrician.- 4 Management of dietary treatment in the home.- 5 Residential management.- Community Reaction to Present Practice.- 6 Parent reaction to medical care and screening.- 7 Screening for Tay—Sachs disease.- 8 Genetic counselling clinics.- 9 The coming of the second genetic code: eugenic abortion in the United Kingdom.- Aspects of Management Requiring Central Policy.- 10 The basis for prescriptive screening.- 11 Resources for nutritional treatment: basic principles and a national ‘Food Bank’.- 12 Detection of heterozygotes.- 13 Prenatal diagnosis.- 14 The phenylketonuria register for the United Kingdom.- 15 Computerized central registers.- 16 Mechanized storage and retrieval of information.- 17 Computer-aided diagnosis of inherited metabolic disease.- The Fourth Milner Lecture.- 18 The biochemical autopsy: a tool for studies of genetically-determined brain disorders.
