Inherited metabolic diseases: a guide to 100 conditions. Steve Hannigan, editor. Oxford: Radcliffe Publishing, 2007 (xi + 167 pp). ISBN 978 1 84619 099 5.

This book has been produced by a United Kingdom-based support group, Children Living with Inherited Metabolic Diseases, in response to families’ needs. Its aim is to present family-friendly information on rare diseases, superior to that published on the Internet. The authors are leading experts in the field — truly a “who’s who” of the metabolic world in the UK, with qualifications clearly listed.

Inherited metabolic diseases presents single-page descriptions of a wide range of topics, including urea cycle defects, fatty acid oxidation defects, organic acidemias, porphyrias, leukodystrophies, and some other genetic conditions including von Willebrand disease.

I have a minor quibble with the over-simplification of X-linked inheritance, in that affected females are generally ignored in the discussions, as it is potentially unhelpful for women with these conditions to “learn” that they are only carriers, not affected.

The rarity of these disorders makes it difficult to envisage the market for this book, at least in an Australian context. The information is too brief to appeal to paediatricians working in a tertiary centre, but it may appeal to support agencies, community health centres and emergency departments. Most general practitioners will only ever see, at most, a single child or adult with one of these conditions. With the possible exception of large general practices, purchasing this book is unlikely to be high on the list of GPs’ priorities.