Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways

ISBN : 9780199797585

Brendan Lee; Fernando Scaglia
384 Pages
183 x 261 mm
Pub date
Nov 2014
Oxford Monographs on Medical Genetics
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Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases - how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.


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

About the author: 

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.

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