Disorders of Biogenic Amines: A Comprehensive Guide to Diagnosis and Therapy

Authored by renowned experts Nenad Blau and Georg F. Hoffmann, this book delves into the complexities of biogenic amine disorders, shedding light on the latest advancements in diagnosis, therapy, and patient care.

Understanding the Impact of Biogenic Amine Disorders

Biogenic amine disorders have been identified as significant contributors to severe, progressive encephalopathies, primarily affecting individuals in early childhood. The past decade has witnessed remarkable progress in unraveling the mysteries of these disorders, resulting in the discovery of new diseases and substantial improvements in diagnostic techniques and patient care.

Diagnostics and Patient Care: The Role of CSF Analysis and Next-Generation Sequencing

The diagnosis of biogenic amine disorders relies heavily on clinical signs and symptoms, leading to the measurement of metabolites in cerebrospinal fluid (CSF). While inherited enzyme deficiencies account for the majority of identified disorders, defects in active compound transport have also been reported. Next-generation sequencing is emerging as a valuable tool to complement CSF analysis, poised to play a more prominent role in primary diagnostics in the future.

Therapy, Monitoring, and Follow-Up: A Clinical and Biochemical Approach

This comprehensive guide focuses on the clinical and biochemical approach to biogenic amine disorders, providing essential information and recommendations on therapy, monitoring, and follow-up. The authors aim to facilitate quicker and more effective therapy, ultimately improving outcomes for affected individuals.

About the Book

Published by UNI-MED Verlag AG, this first edition book was released on December 16, 2020, and is written in English. With its in-depth insights and expert guidance, this book is an invaluable resource for healthcare professionals, researchers, and families affected by biogenic amine disorders.