Biomarkers in Inborn Errors of Metabolism

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. Laurie D. Smith, PhD MD is an Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She is a board certified pediatrician, clinical geneticist, and clinical biochemical geneticist with extensive experience in the diagnosis and management of inborn errors of metabolism. She is currently a member of the Center for Pediatric Genomic Medicine at Children's Mercy-Kansas City. She serves or has served on a number of national, regional and state committees and organization and is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics. She has published numerous research papers and book chapters. She has co-edited one book.

• 1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism2. Amino acid disorders3. Organic acid disorders4. Disorders of mitchondrial fatty acid β-oxidation5. Urea cycle and other disorders of hyperammonemia6. Newborn screening7. Carbohydrate disorders8. Mitochondrial disorders9. Lysosomal storage disorders: mucopolysaccharidoses10. Lysosomal storage disorders: sphingolipidoses11. Peroxisomal disorders: clinical and biochemical laboratory aspects12. Disorders of purine and pyrimidine metabolism13. Biomarkers for the study of catecholamine and serotonin genetic diseases14. Cerebral creatine deficiency syndromes15. Congenital disorders of glycosylation16. Disorders of vitamins and cofactors17. Disorders of trace metals