Abstract
Clinical education is based on the apprenticeship system and depends upon the student having personal experience of most of the disorders that he is likely, in the future, to have to deal with. For more unusual or difficult problems, a system of specialist consultants exists and some of these are inclined to specialize even further by seeking out groups of related, but even more unusual, disorders such as muscular dystrophy or childhood celiac disease, and to devise systems of care that would otherwise remain untried and unavailable. For disorders even less common than muscular dystrophy, such as the rare metabolic diseases, the undergraduate educational system breaks down, and unless special attention is drawn to one of these, as with phenylketonuria (because it was one of the first chronic forms of mental subnormality to be treatable), or with galactosaemia (because it often presents with recognizable clinical features and again can be treated) it is likely to pass unrecognized by many medical consultants and to remain unknown to most family doctors (the educational system does not allow it to be otherwise). There are already more than 140 of these rare metabolic disorders inherited by recessive or sex-linked mechanisms for which the precise enzyme deficiency is known: there are altogether 1 200 diseases inherited by similar mechanisms and may soon prove to be metabolic in origin.1 These diseases collectively constitute a significant part of clinical medicine which the present structure of health care does not allow of satisfactory management.
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Raine, D.N. (1977). The need for a national policy for the management of inherited metabolic disease. In: Raine, D.N. (eds) Medico-Social Management of Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-6173-2_1
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DOI: https://doi.org/10.1007/978-94-011-6173-2_1
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