Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism

Clinical Aspects and Laboratory Determination

1st Edition - June 1, 2017

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  • Authors: Uttam Garg, Laurie Smith
  • Hardcover ISBN: 9780128028964
  • eBook ISBN: 9780128029183

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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. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book 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. 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.

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


Residents, fellows and professionals in molecular pathology, lab medicine, clinical chemistry, and medical genetics; endocrinologists and pediatricians

Table of Contents

  • 1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism
    2. Amino acid disorders
    3. Organic acid disorders
    4. Disorders of mitchondrial fatty acid β-oxidation
    5. Urea cycle and other disorders of hyperammonemia
    6. Newborn screening
    7. Carbohydrate disorders
    8. Mitochondrial disorders
    9. Lysosomal storage disorders: mucopolysaccharidoses
    10. Lysosomal storage disorders: sphingolipidoses
    11. Peroxisomal disorders: clinical and biochemical laboratory aspects
    12. Disorders of purine and pyrimidine metabolism
    13. Biomarkers for the study of catecholamine and serotonin genetic diseases
    14. Cerebral creatine deficiency syndromes
    15. Congenital disorders of glycosylation
    16. Disorders of vitamins and cofactors
    17. Disorders of trace metals

Product details

  • No. of pages: 476
  • Language: English
  • Copyright: © Elsevier 2017
  • Published: June 1, 2017
  • Imprint: Elsevier
  • Hardcover ISBN: 9780128028964
  • eBook ISBN: 9780128029183

About the Authors

Uttam Garg

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.

Affiliations and Expertise

Garg Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, United States; University of Missouri School of Medicine, Kansas City, MO, United States

Laurie Smith

Laurie D. Smith, PhD MD is an Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She is a board certified pediatrician, clinical geneticist, and clinical biochemical geneticist with extensive experience in the diagnosis and management of inborn errors of metabolism. She is currently a member of the Center for Pediatric Genomic Medicine at Children's Mercy-Kansas City. She serves or has served on a number of national, regional and state committees and organization and is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics. She has published numerous research papers and book chapters. She has co-edited one book.

Affiliations and Expertise

Clinical Geneticist and Clinical Biochemical Geneticist, Associate Professor of Pediatrics, Division of Genetics and Metabolism, University of North Carolina, School of Medicine

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