Edited by:

Carla EM Hollak Robin H Lachmann ISBN: 9780199972135 Published by: Oxford University Press Price: £130.00 $198.50

Six years after the official launch of the Adult Group in the Society for the Study of Inborn Errors of Metabolism (SSIEM), a pioneering new book appeared, a real original effort of the editors and their 114 internationally recognized expert chapter-authors. A similar comprehensive, well-detailed but still concise, easy-to-use clinical guide on the adult inherited metabolic diseases that is useful for all physicians with any medical interest or specialization has not ever been published so far.

Why is the concept new? On the one hand, thanks to the special care and different treatment options and interventions, several patients with classic pediatric-onset inherited metabolic diseases survive the pediatric age, and this brings new challenges into adult medicine. On the other hand, during the past decade knowledge on the maturity-onset disease group has also changed a lot, as a spectrum of new information has been accumulated about the changes to the clinical picture throughout the extended natural history of these diseases.

The book offers a clear classification and biochemical description of all major and rare inborn metabolic disorders, pediatric and adult, with a systematic approach to each condition by way of easy clinical utility and navigability. It covers both acute presentations and long-term complications, and serves as a guide for interpreting a number of specialist biochemical tests, for example, for interpretation of the acyl carnitine profiles in a patient’s diagnosis and management.

The first and major part is about the metabolic pathways and their disorders in adults; the next chapter is devoted to the various approaches to the patients, which is very useful for non-geneticist readers. Additional parts help the reader with the interpretation of some common special metabolic tests, and serves as a practical guide for the most prevalent diseases, with brief, easily accessible management guidelines for the most common conditions of this type.

I would recommend the book primarily to all practitioners as a first choice instead of the web mining, to postgraduates in medicine, including the board exam trainees, and to all physicians who encounter adult patients with diseases that have a rare clinical picture.