Read more
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.
List of contents
1. Introduction to the Laboratory Diagnosis of Inherited Metabolic Diseases
2. Amino Acid Disorders
3. Organic Acids Disorders
4. The Urea Cycle Disorders and Hyperammonaemias
5. Mitochondrial Fatty acid oxidation defects
6. Disorders of Carbohydrate Metabolism
7. Lysosomal storage diseases
8. Peroxisomal disorders
9. Transport Defects
10. Mitochondrial disorders
11. Disorders of Purine and Pyrimidine Metabolism
12. Creatine Deficiency Disorders
13. Disorders involving specific metals, vitamins and cofactors
14. Neurotransmitter disorders
15. Glycogen storage diseases
16. Gluconeogenesis disorders
17. Disorders of glycosylation
18. Newborn Screening
About the author
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.
