Inborn Errors of Metabolism

Brendan Lee, MD, PhD, is Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. His primary research interests include the natural history and molecular characterization of mitochondrial cytopathies, clinical trials for Leigh syndrome, and the study of nitric oxide and glucose metabolism in patients with MELAS syndrome.

SECTION 1. Newborn Screening ; Chapter 1: Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation ; V. Reid Sutton and Brett H. Graham ; SECTION 2. Pathways ; Chapter 2: Human Glycosylation Disorders: Many faces, many pathways ; Hudson H. Freeze, Erik A. Eklund and Donna M. Krasnewich ; Chapter 3. Gluconeogenesis ; Erin M. Coffee and Dean R. Tolan ; Chapter 4. Branched chain amino acid metabolism ; Irini Manoli and Charles Venditti ; Chapter 5. Glycolysis ; Areeg El-Gharbawy and Dwight Koeberl ; Chapter 6. Urea Cycle: Ureagenesis and Non-Ureagenic Functions ; Oleg A. Shchelochkov, Sandesh CS Nagamani, Philippe M. Campeau, Ayelet Erez, Brendan H. Lee ; Chapter 7. Fatty Acid Metabolism and Defects ; Marwan S. Shinawi and Lutfi A. Abu-Elheiga ; Chapter 8. Mitochondrial disorders ; Ayman W El-Hattab and Fernando Scaglia ; Chapter 9. Cholesterol, sterols, and isoprenoids ; Yasemen Eroglu, Jean-Baptiste Roullet, and Robert D. Steiner ; Chapter 10. Disorders of One Carbon Metabolism ; Luis Umana and William J. Craigen ; Chapter 11. Neurotransmission and Neurotoxicity (PKU and Dopamine) ; Uta Lichter-Konecki ; SECTION 3. Therapeutic Approaches ; Chapter 12. Cell and organ transplantation ; Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg ; Chapter 13. Gene replacement therapy ; Nicola Brunetti-Pierri ; Chapter 14. Protein replacement therapy ; Christine Eng & Gregory Pastores ; Chapter 15. Chaperone therapy ; Marc Patterson ; Chapter 16. Substrate deprivation theory ; Ellen Sidransky