Laboratory Diagnosis of Inherited Metabolic Diseases - Softcover

Softcover

ISBN 10: 0443413797 ISBN 13: 9780443413797

Publisher: Elsevier, 2026

Synopsis

Laboratory Diagnosis of Inherited Metabolic Diseases, Second Edition provides the most up-to-date guidance on laboratory test selection and interpretation, illustrated metabolic pathways, and information on clinical presentation, genetics, pathogenesis, treatment, and prognosis of these diseases. Since the first edition and the expansion of newborn screening, an increasing number of healthcare providers are encountering metabolic disorders, so selecting and interpreting tests can be challenging. This fully revised edition offers simple and practical approaches to understanding metabolic diseases, assisting in the selection of tests for confirmatory diagnosis and clinical follow-up.

Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs). These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid. The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids.

• Presents brief descriptions of metabolic diseases as a basis for understanding each disease mechanism
• Covers initial diagnostic markers, emphasizing the importance of biomarkers in disease monitoring and management
• Provides substantial updates to the "Genetics and Pathogenesis" sections to reflect new discoveries and insights over the past twelve years
• Includes two new chapters on "Disorders of Vitamins and Co-factors" and "Disorders of Trace Elements," offering detailed analysis of related disorders

About this title

About the Authors

Dr. Uttam Garg has published over 150 research papers, review articles, and book chapters in the area of clinical biochemistry, therapeutic drug monitoring and toxicology, and Co-Edited a book on Clinical Applications of Mass Spectrometry. His research interests include methods development in clinical laboratory diagnosis. His research interests include clinical method development on a variety of diagnostic platforms including mass spectrometry. He received his Ph.D. in Experimental Medicine from the Postgraduate Institute of Medical Education and Research in India. He received his postdoctoral training in Pharmacology at and Clinical Chemistry at New York Medical College and University of Minnesota Medical School respectively. Before joining his current position, he served as faculty at the NYU Medical Center and the University of Minnesota Medical School.

Bryce Heese MD is the Director of the Division of Clinical Genetics at Children's Mercy Hospital, and Assoicate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. He has had experience with national and regional workgroups dealing with newborn screening process and he has served as a medical consultant and advisory committee member for several state screening programs.

Jennifer Gannon, MD, is a clinical biochemical geneticist in the Division of Clinical Genetics at Children’s Mercy Hospital, and Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She serves as a medical consultant for regional newborn screening programs, including advising in the development of referral protocols for newborn screening tests in her role as member and chair of advisory committees. Her clinical practice includes evaluation of infants with abnormal newborn screening test results and treatment of patients with inborn errors of metabolism.

From the Back Cover

Laboratory Diagnosis of Inherited Metabolic Diseases provides the most up-to-date guidance on laboratory test selection and interpretation, illustrated metabolic pathways, and information on clinical presentation, genetics, pathogenesis, treatment, and prognosis of these diseases. Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs). These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid. The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids. Since the first edition and the expansion of newborn screening, an increasing number of healthcare providers are encountering metabolic disorders, and selecting and interpreting tests can be challenging. This fully revised edition offers simple and practical approaches to understanding metabolic diseases, assisting in the selection of tests for confirmatory diagnosis and clinical follow-up.

Edition details

• Publisher: Elsevier
• Publication date: 2026
• Language: English
• ISBN 10: 0443413797
• ISBN 13: 9780443413797
• Binding: Paperback
• Edition number: 2
• Number of pages: 512
• Editor: Garg PhD DABCC FABFT FACB Uttam, Heese Bryce, Gannon MD PhD Jennifer