Abstract
Edited by Uttam Garg, Laurie D Smith, and Bryce A Heese
Washington: AACC Press, 2012
252 pp, Price $61.00
ISBN: 978-1-594-25140-5
There is a wealth of books and internet resources on inherited metabolic diseases (IMDs), so I was interested to see whether this book would provide additional information to that already available. Two things stood out after my first look through the book. Firstly, at around £40, this is substantially cheaper than most text books on IMD, and secondly, the book is illustrated with a large number of chromatograms and other outputs from laboratory methods. Written by laboratory scientists, the book has an emphasis on methodological aspects of the investigation of IMDs.
Most of the book comprises chapters on IMDs grouped according to metabolic pathway. Brief information on the clinical features of each disorder is provided followed by more details of the metabolic pathway, in some cases showing the molecular structures of the metabolites, and the biochemical defect causing the disorder. For each group of disorders, the laboratory tests used in its investigation are described, including sample collection, analytical methods and interpretation of results. Chromatograms, mass spectra and graphs are used to illustrate results generated in the laboratory and provide information of use to the laboratory scientist not found in other publications. This is a relatively small book, so much of the information is presented as tables, and references to more detailed information are provided.
It is good to have a book with an emphasis on the science of IMDs. I found the use of chemical structures particularly useful as this helps to understand the results of laboratory investigations, and it is useful to see chromatograms of results from patients with IMDs as these disorders are so rare that many metabolic laboratory scientists may not have seen diagnostic results before.
The authors of the book are all from the USA and describe the investigation of IMDs using protocols from their own laboratories. I found it interesting to note the differences from current UK practice. For example, first line investigation of IMD does not include urine amino acids analysis and there is no discussion of interpretation of urine amino acid TLC. The chapter on newborn screening describes over 30 disorders, something the UK screening service can only dream about at the moment.
There were a few things about the book which made it a little difficult to use. There are a few textual errors and some duplication of text within a chapter. The molecular structures of amino acids are incomplete with many of the hydrogen atoms missing; simple line drawings of molecules are straightforward to produce and would be easier to read. The index is the most important part of a book covering such a complex topic and it appears that the contents of tables, a large part of the book, have not been included.
Having said that, a reasonably priced book describing the laboratory investigation of IMDs and giving a scientific background to these complex disorders is most welcome. Bearing in mind that this book describes practice in the USA, it may be a useful addition to the library of a clinical biochemistry laboratory to assist in the selection of tests for investigation of IMDs and their interpretation. The clear illustrations of metabolic pathways are useful in explaining the disorders, and trainees preparing for the FRCPath examination may find review of the illustrations of chromatograms useful.
The laboratory diagnosis of IMDs is extremely complex and it is unusual to find so much information in an affordable book. A UK-based clinical biochemist must be careful to heed the advice of the authors to refer to local guidelines, but in general this book may help to guide the selection of tests for the investigation of patients and provides a unique resource of information on laboratory methods used in the diagnosis of IMDs and their results.