A Quick Guide to Metabolic Disease Testing Interpretation

A Quick Guide to Metabolic Disease Testing Interpretation

Testing for Inborn Errors of Metabolism

2nd Edition - July 31, 2020

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  • Authors: Patricia Jones, Khushbu Patel, Dinesh Rakheja
  • Paperback ISBN: 9780128169261
  • eBook ISBN: 9780128169278

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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. A Quick Guide to Metabolic Disease Testing 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

  • Section 1 Introduction
    1. Introduction

    Section 2 Organic acidurias
    2. Disorder: Glutaric acidemia type 1
    3. Disorder: Glutaric acidemia type 2
    4. Disorder: 2-Hydroxyglutaric aciduria
    5. Disorder: Isovaleric aciduria
    6. Disorder: 2-Methylbutyrylglycinuria
    7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency
    8. Disorder: 3-Methyglutaconic aciduria
    9. Disorder: Methylmalonic aciduria
    10. Disorder: Propionic acidemia
    11. Disorder: Succinic semialdehyde dehydrogenase deficiency

    Section 3 Urea cycle defects
    12. Disorder: Arginase deficiency
    13. Disorder: Argininosuccinic acidemia
    14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency
    15. Disorder: Citrullinemia and citrin deficiency
    16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
    17. Disorder: Ornithine transcarbamylase deficiency

    Section 4 Disorders of amino acid metabolism
    18. Disorder: β-Ketothiolase deficiency
    19. Disorder: Lysinuric protein intolerance
    20. Disorder: Maple syrup urine disease
    21. Disorder: Glycine encephalopathy
    22. Disorder: Phenylketonuria
    23. Disorder: Tyrosinemia type 1
    24. Disorder: Tyrosinemia types 2 and 3

    Section 5 Fatty acid oxidation defects
    25. Disorder: Carnitine-acylcarnitine translocase deficiency
    26. Disorder: Carnitine palmitoyltransferase 1 deficiency
    27. Disorder: Carnitine palmitoyltransferase 2 deficiency
    28. Disorder: Carnitine transporter deficiency
    29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency
    31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    32. Disorder: Very long chain acyl CoA dehydrogenase deficiency

    Section 6 Other metabolic disorders
    33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency
    34. Disorder: Canavan Disease
    35. Disorder: Dihydropyrimidine dehydrogenase deficiency
    36. Disorder: Glutathione synthetase deficiency
    37. Disorder: Pyruvate dehydrogenase deficiency

Product details

  • No. of pages: 220
  • Language: English
  • Copyright: © Academic Press 2020
  • Published: July 31, 2020
  • Imprint: Academic Press
  • Paperback ISBN: 9780128169261
  • eBook ISBN: 9780128169278

About the Authors

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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