A Quick Guide to Metabolic Disease Testing Interpretation: Testing for Inborn Errors of Metabolism

by Patricia Jones, Khushbu Patel, Dinesh Rakheja

Overview

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.

• 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

Product Details

ISBN-13:	9780128169278
Publisher:	Elsevier Science
Publication date:	07/31/2020
Sold by:	Barnes & Noble
Format:	eBook
Pages:	220
File size:	11 MB
Note:	This product may take a few minutes to download.

About the Author

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).
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.
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.

Table of Contents

Section 1 Introduction1. Introduction

Section 2 Organic acidurias2. Disorder: Glutaric acidemia type 13. Disorder: Glutaric acidemia type 24. Disorder: 2-Hydroxyglutaric aciduria5. Disorder: Isovaleric aciduria6. Disorder: 2-Methylbutyrylglycinuria7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency8. Disorder: 3-Methyglutaconic aciduria9. Disorder: Methylmalonic aciduria10. Disorder: Propionic acidemia11. Disorder: Succinic semialdehyde dehydrogenase deficiency

Section 3 Urea cycle defects12. Disorder: Arginase deficiency13. Disorder: Argininosuccinic acidemia14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency15. Disorder: Citrullinemia and citrin deficiency16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17. Disorder: Ornithine transcarbamylase deficiency

Section 4 Disorders of amino acid metabolism18. Disorder: ß-Ketothiolase deficiency19. Disorder: Lysinuric protein intolerance20. Disorder: Maple syrup urine disease21. Disorder: Glycine encephalopathy22. Disorder: Phenylketonuria23. Disorder: Tyrosinemia type 124. Disorder: Tyrosinemia types 2 and 3

Section 5 Fatty acid oxidation defects25. Disorder: Carnitine-acylcarnitine translocase deficiency26. Disorder: Carnitine palmitoyltransferase 1 deficiency27. Disorder: Carnitine palmitoyltransferase 2 deficiency28. Disorder: Carnitine transporter deficiency29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency32. Disorder: Very long chain acyl CoA dehydrogenase deficiency

Section 6 Other metabolic disorders33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency34. Disorder: Canavan Disease35. Disorder: Dihydropyrimidine dehydrogenase deficiency36. Disorder: Glutathione synthetase deficiency37. Disorder: Pyruvate dehydrogenase deficiency

What People are Saying About This

From the Publisher

Accessible guide to assist in the interpretation of the chromatographs from individuals with commonly encountered inborn errors of metabolism

Editorial Reviews

"If this is your area of laboratory or clinical practice - two words: get it." —Doody

From the Publisher

Reviewer: Valerie L Ng, PhD MD(Alameda County Medical Center/Highland Hospital)
Description: This slim paperback book in its second edition is truly "A Quick Guide to Metabolic Disease Testing Interpretation."
Purpose: The purpose of this book is to provide a reference for inborn errors of metabolism (IEM) commonly observed in clinical practice to aid in test utilization and interpretation. These are very worthy objectives very well met by this book.
Audience: This book is intended for anyone involved with the laboratory diagnosis of IEM, including clinical laboratory scientists, students, or practicing or doctoral-level laboratory directors overseeing this technical testing area. It would also be of interest to any clinician whose practice might involve caring for patient with IEMs and curious about how IEMs are diagnosed in the laboratory (e.g., pediatricians, internists, neurologists, primary care providers, etc.). This book meets the needs of the intended audience and the authors are credible authorities on the subject.
Features: This book packs incredible amounts of information into a deceptively slim and incredibly concise book. It is simply fabulous! For those of you who do this type of testing for a living, this is the book for you. Its strength is the incorporation of chromatograms displaying "common metabolites in specific patterns" typical of specific IEMs under discussion. It is a book you can grab and flip through the pages to find the matching chromatogram from which you can make a diagnosis. The book is very well organized. The first chapter discusses basic laboratory techniques and includes a (fabulous!) table associating acids/metabolites with specific IEMs and, the best part of all, non-IEM sources of the particular acid/metabolite that could confound diagnosis. This is followed by 37 short chapters focusing on a specific IEM. Each chapter begins with a brief discussion on incidence and clinical presentation, followed by the biochemical pathway affected (great graphics!), the exemplary chromatogram, and - from my perspective, the icing on the cake - "interference and assay or interpretation quirks"(!). The text is incredibly concise and so accessible. You can consult it quickly, even in the midst of answering a phone consult, and you will simply wow your clinical colleagues.
Assessment: If this is your area of laboratory or clinical practice - two words: get it.

Doody's Review Service