Biomarkers of Inborn Errors in Metabolism: A Comprehensive Guide

Authors: Uttam Garg, Laurie D. Smith

Publication Date: June 15, 2017

Pages: 476

ISBN-10: 0128028963

ISBN-13: 978-0128028964

Dimensions: 7.6 x 1.1 x 9.4 inches

Series: Clinical Aspects and Laboratory Determination of Biomarkers Series

Publisher: Elsevier

Language: English

Format: Hardcover

Description: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.

Key Features:

• Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens
• Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers
• Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism
• Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Target Audience: This book is intended for healthcare professionals, researchers, and students interested in the diagnosis and treatment of inherited metabolic diseases.

Content Overview: Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future.

Why This Book Matters: With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. This book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. It provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation.