Laboratory Diagnosis of Inherited Metabolic Diseases

Nyhet

Häftad, Engelska, 2026

Av Uttam Garg, Bryce Heese, Jennifer Gannon

1 279 kr

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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.

Presents brief descriptions of metabolic diseases for a base of understanding each disease mechanism
Fully revised "Laboratory Diagnosis" sections cover initial diagnostic markers and emphasizes the importance of biomarkers in disease monitoring and management
Provides substantial updates to the "Genetics and Pathogenesis" sections to reflect new discoveries and insights over the past twelve years
Includes two new chapters on "Disorders of Vitamins and Co-factors" and "Disorders of Trace Elements" offering detailed analysis of related disorders

Produktinformation

Utgivningsdatum2026-06-01
Mått191 x 235 x undefined mm
Vikt450 g
FormatHäftad
SpråkEngelska
Antal sidor300
Upplaga2
FörlagElsevier Science
ISBN9780443413797

Tillhör följande kategorier

Fysiologi inom Medicin
Endokrinologi inom Medicin

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.

1. Introduction to the Laboratory Diagnosis of Inherited Metabolic Diseases2. Amino Acid Disorders3. Organic Acids Disorders4. The Urea Cycle Disorders and Hyperammonaemias5. Mitochondrial Fatty acid oxidation defects6. Disorders of Carbohydrate Metabolism7. Lysosomal storage diseases8. Peroxisomal disorders9. Transport Defects10. Mitochondrial disorders11. Disorders of Purine and Pyrimidine Metabolism12. Creatine Deficiency Disorders13. Disorders involving specific metals, vitamins and cofactors14. Neurotransmitter disorders15. Glycogen storage diseases16. Gluconeogenesis disorders17. Disorders of glycosylation18. Newborn Screening