A Quick Guide to Metabolic Disease Testing Interpretation - 2nd Edition - ISBN: 9780128169261

A Quick Guide to Metabolic Disease Testing Interpretation

2nd Edition

Testing for Inborn Errors of Metabolism

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Authors: Patricia Jones Khushbu Patel Dinesh Rakheja
Paperback ISBN: 9780128169261
Imprint: Academic Press
Published Date: 1st August 2020
Page Count: 200
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Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. Quick Guide to Organic Acid Interpretation, Second Edition provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.

Key Features

  • Includes pathway diagrams and representative compound scans of important diagnostic compounds
  • Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism
  • Highlights brief descriptions of the etiology and clinical presentation of each presented disorder


Laboratory pathologists, clinical chemists, and geneticists; practicing clinicians, fellows and residents in pathology, internal medicine, and family practice

Table of Contents

  1. Introduction 1
    2. Glutaric Acidemia Type 1
    3. Glutaric Acidemia Type 2
    4. Glutathione Synthetase Deficiency
    5. 2-Hydroxyglutaric Aciduria
    6. Isovaleric Aciduria
    7. Maple Syrup Urine Disease
    8. Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    9. 2-Methylcrotonyl-CoA-Carboxylase Deficiency
    10. Methylmalonic Aciduria
    11. Ornithine Transcarbamylase Deficiency
    12. Propionic Acidemia
    13. Succinic Semialdehyde Dehydrogenase Deficiency
    14. Tyrosinemia Type 1
    15. Miscellaneous Commonly Encountered Chromatographic Patterns
    16. Adipic Aciduria
    17. Allopurinol Therapy
    18. Dicarboxylic Aciduria
    19. Immature Liver/Hepatic Dysfunction
    20. Lactic Aciduria


No. of pages:
© Academic Press 2020
1st August 2020
Academic Press
Paperback ISBN:

About the Author

Patricia Jones

Dr. Jones is the Clinical Director of the Chemistry and Metabolic Disease Lab at Children’s Medical Center of Dallas and a Professor of Pathology at UT Southwestern Medical Center. Her PhD is in Molecular Biology with a minor in Biochemistry. Her duties include instructing pathology residents and various fellows in aspects of clinical chemistry and metabolic disease testing, and acting as a clinical consultant at the Dallas County hospital (Parkland) and the university hospital system. Her research interests lie in the field of inborn errors of metabolism, especially disorders of fatty acid metabolism. Dr. Jones has been an active member of the American Association for Clinical Chemistry (AACC) since 1986, serving on numerous committees for that association. She is currently the AACC President-elect and will be AACC President in 2016. She is the Past-President of the National Academy of Clinical Biochemists (NACB) and American Association for Clinical Chemistry (AACC).

Affiliations and Expertise

Professor of Pathology, UT Southwestern Medical Center, Dallas, TX, USA

Khushbu Patel

Dr. Patel is an Assistant Professor and Associate Director of Clinical Chemistry, Children's Health at UT Southwestern. She received her PhD in Molecular Cell Biology from Washington University in St. Louis, MO.

Affiliations and Expertise

Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA

Dinesh Rakheja

Dr. Rakheja did his medical schooling at All India Institute of Medical Sciences in New Delhi. He completed pathology residencies at Maulana Azad Medical College (Delhi University) and UT Southwestern Medical Center. He trained in gastrointestinal pathology and neuropathology as a senior resident (fellow equivalent) at GB Pant Hospital (Delhi University) and completed a pediatric pathology fellowship at UT Southwestern/Children’s Medical Center. Dr. Rakheja studies the genetics and metabolism of childhood cancer. He has specific interests in tumor tissue banking, establishing primary pediatric cancer cell lines, and developing laboratory assays for diagnostic, prognostic, and therapeutic targets in pediatric cancers.

Affiliations and Expertise

Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA

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