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Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases.
  1. J E WRAITH, Consultant paediatrician

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    Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Edited by Nenad Blau et al. (Pp 501; £65 paperback.) Chapman and Hall, 1996. ISBN 412-575-604.

    The prognosis for infants and children with inborn errors of metabolism is often directly related to the speed of diagnosis and institution of appropriate treatment. Attempts to shorten the period of diagnostic uncertainty are to be applauded. Most short textbooks on metabolic disorders emphasise clinical presentation and treatment, but this publication takes a different approach and concentrates on the diagnostic process. It is almost entirely biochemically based and little information about the molecular tests available are presented. This is a weakness especially in a field where molecular biology is beginning to make a major impact. I suspect this would be corrected in a second edition.

    I like the way in which the chapters followed a standard format and all contributions are written by a recognised expert in their field which gave the text an authoritative feel. It is unfortunate that the end result is not attractive. Indeed one’s initial impression is of a sea of tables, algorithms, and biochemical pathways with little intervening text. It is clear on closer inspection that an enormous amount of work must have gone into the coordination and publication of the book, but I fear, however, it will miss its intended audience. In my experience most non-specialist paediatricians when faced with a possible metabolic problem want clear advice on what tests to do and in addition want the result of the tests to be interpreted for them. The pages of reference data on metabolite values and various biological fluids will not be of interest to them and I suspect most will read only the summaries at the end of each chapter, which indeed are excellent. Where access to a specialist opinion is limited the tables and algorithms are a helpful guide to diagnosis and for non-specialist laboratories the tables of data should help in interpreting test results. For workers within the field of inherited metabolic disease there is little new in the text, but I am sure all would agree how useful it is to have such a comprehensive set of data within a single short text.

    In conclusion I am uncertain whether ‘do it yourself’ books such as this are the correct response to our expanding knowledge of inherited metabolic disease. Although it is true that the number of patients and the range of disorders is increasing this is not a strong argument for trying to make everyone an ‘expert’. I would prefer to see an increase in the number of trained clinicians specialising within the field to meet this need.

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