Congenital Neurotransmitter Disorders - Springer Link

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Congenital neurotransmitter disorders are a group of rare in- born errors of metabolism leading to severe, progressive, mostly early-onset encephalopathies ...
J Inherit Metab Dis (2015) 38:587 DOI 10.1007/s10545-015-9837-5

BOOK REVIEW

Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach ISBN: 978-1-63463-071-9 Nikolas Boy 1 & Verena Peters 1

# SSIEM 2015

Congenital neurotransmitter disorders are a group of rare inborn errors of metabolism leading to severe, progressive, mostly early-onset encephalopathies comprising a very wide spectrum of clinical symptoms. Although specific therapeutic approaches can lead to excellent outcome in some of the disorders and although a lot of progress has recently been made regarding diagnostic and therapeutical options, diagnosis is often delayed for many years. Some patients may even remain undiagnosed. Therefore, especially child and adult neurologists should become familiar with the broad spectrum of monogenic neurometabolic diseases to benefit from new insights on clinical indication and interpretation of specialized CSF investigations and therapeutic approaches. The book on Congenital Neurotransmitter Disorders by Hoffmann and Blau is divided into 12 chapters of which the first gives an overview on characteristic clinical signs and symptoms including helpful practical aspects for diagnostic investigations in blood, urine and CSF. The following chapters provide detailed information and recommendations for

* Verena Peters [email protected] Nikolas Boy [email protected] 1

Centre for Paediatric and Adolescence Medicine, University Children’s Hospital Heidelberg, Heidelberg, Germany

the different neurotransmitter disorders in a profound, wellstructured, inventive format. Each description starts with clinical presentation followed by biochemical and genetic findings, pathobiochemical disease mechanisms, therapeutical management, long term outcome and diagnostic pitfalls. All chapters are written by well-known experts for the specific disorders from all over the world. This book is a good overview on clinical characteristics, diagnosis and therapy of congenital neurotransmitter disorders. As an asset, the book follows a very practical characterization of each disorder highlighting the clinical process from symptoms to diagnosis and therapy. In addition to that, the book provides numerous tables summarizing clinical aspects, biochemical markers, disease characteristics and treatment options supported by illustrative schematic figures on biochemical pathways or mechanisms. The book supplies both clinicians and clinical biochemists with profound knowledge and hopefully will help to improve awareness for these disorders.