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Eur J Hum Genet. 2016 April; 24(4): 623.
Published online 2016 March 10. doi:  10.1038/ejhg.2015.145
PMCID: PMC4929868

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways

Paving the path for better understanding of IEM
Reviewed by Olga Amaral1,*

Edited by: B Lee and F Scaglia
Published by: Oxford University Press
ISBN: 978-0-19-979758-5
Price: £81.00; $125.00

The book ‘Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways' edited by two well-known specialists in the area of inborn errors of metabolism (IEMs), Brendan Lee and Fernando Scaglia, gives us a different vision in this field.

It was a pleasure to review this book, to be able to browse through it and appreciate it. This is not a common textbook, neither is it a regular book on IEMs. It is a ‘guide' into the field of metabolic diseases; it is a comprehensive and updated history of a rapidly evolving field. This is an interesting and original work that will certainly be relevant for students as well as specialists.

The book is cleverly divided into three major sections and organized into 16 chapters covering various areas of IEMs and written by world experts in the respective fields. The three major sections cover newborn screening, metabolic pathways and therapeutic approaches. In this book, information is gathered with the help of comprehensive tables, illustrations and schemes. The illustrations are elegant and easy to understand, the book itself is easy to follow as it provides well-written up-to-date reviews organized by topics.

This book provides a concise yet detailed coverage of the field of IEMs by addressing the pathway organization and its malfunctions. The presentation of a natural history overview provides a new perspective and highlights the fact that IEMs are a never-ending area rich in complexity. Methods of diagnosis and their underlying principles, as well as present and potential treatment strategies, are thoroughly discussed in the various chapters.

Although lysosomal diseases are not addressed in a single chapter; special attention is given to these organelle disorders under the focus on recent advances in therapeutics.

Written by world-renowned specialists this is a compact, yet very complete, guide into the world of IEMs. This book provides a fresh look at metabolic diseases; the importance of the pathway idea goes beyond the individual diseases and gives an integrated vision of the defects in relation to the mechanisms involved. Undoubtedly, the pathway approach makes this book particularly original in an era of translational research.

This is a most valuable contribution to the field of IEMs and will become an ideal companion for students and clinicians. I found the hard cover version particularly resistant and adequate for frequent use.


Articles from European Journal of Human Genetics are provided here courtesy of Nature Publishing Group