Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

Focuses on different metabolic pathways and addresses the underlying mechanisms of pathogenesis
Goes further than the traditional approach that focuses on classical biochemistry, clinical presentation, and standard treatments
Presents the complex clinical phenotype using an innovative pathway approach
Includes coverage of newborn screening for IEMs

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

Description

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.

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

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

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

Author Information

Edited by Brendan Lee, Professor and Chair, Department of Molecular and Human Genetics, Baylor College of Medicine, USA, and Fernando Scaglia, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, USA

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.

Contributors:

Lutfi A. Abu-Elheiga, PhD
Verna and Marrs McLean Department of Biochemistry and Molecular Biology
Baylor College of Medicine
Houston, Texas, USA

Andrea Bordugo
Division of Inherited Metabolic Disorders
Department of Pediatrics
University Hospital, Padova, Italy

Nicola Brunetti-Pierri, M.D. F.A.C.M.G.
Telethon Institute of Genetics and Medicine, Naples, Italy and Department of Translational Medical Sciences, Federico II University of Naples, Italy.

Alberto Burlina
Division of Inherited Metabolic Disorders
Department of Pediatrics
University Hospital, Padova, Italy

Robert Burnett, B.S.
Medical Genetics Branch National Human Genome Research Institute

Philippe M. Campeau

Alexander J Choi, B.S.
Medical Genetics Branch National Human Genome Research Institute

Erin M. Coffee, Ph.D.
Biology Department
Boston University
Boston, MA

William J. Craigen
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX

Erik A Eklund, MD, PhD
Associate Professor of Experimental Pediatrics
Department of Clinical Sciences
Lund University
Lund, Sweden

Ayman W El-Hattab
Division of Medical Genetics, Department of Pediatrics, The Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Faculty of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Ayelet Erez

Yasemen Eroglu,MD
Pediatric Gastroenterology and Hepatology
Oregon Health & Science University
Portland, OR

Hudson H. Freeze
Human Genetics Program
Sanford-Burnham Medical Research Institute
La Jolla, California, USA

Areeg El-Gharbawy
Division of Medical Genetics, Department of Pediatrics
Duke University Medical Center
Durham, North Carolina, USA

Ehud Goldin, Ph.D.
Medical Genetics Branch National Human Genome Research Institute

Brett H. Graham, M.D., Ph.D
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas, USA

Georg F. Hoffmann
Department of General Pediatrics
University Children's Hospital
Heidelberg, Germany

Dwight Koeberl
Division of Medical Genetics, Department of Pediatrics
Duke University Medical Center
Durham, North Carolina, USA

Donna M. Krasnewich M.D., Ph.D.
National Institute of General Medical Sciences
National Institutes of Health
Bethesda, Maryland, USA

Robert and Janice Endowed Chair in Molecular and Human Genetics
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX

Uta Lichter-Konecki, MD PD
Columbia University
Dept. of Pediatrics
Division of Clinical Genetics
New York, NY

Irini Manoli, M.D., Ph.D.
Organic Acid Research Section
National Human Genome Research Institute National Institutes of Health

Jochen Meyburg
Department of General Pediatrics
University Children's Hospital
Heidelberg, Germany

Sandesh CS Nagamani
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX

Marc C. Patterson, MD, FRACP
Professor of Neurology, Pediatrics and Medical Genetics
Mayo Clinic College of Medicine
Chair, Division of Child and Adolescent Neurology
Mayo Clinic
Rochester MN

Jean-Baptiste Roullet, Ph.D.
Research Associate Professor, Department of Pediatrics
Oregon Health & Science University
Portland, OR

Fernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Texas Children's Hospital, Houston, Texas, USA.

Oleg A. Shchelochkov, MD, FAAP
Division of Genetics
Department of Pediatrics
University of Iowa Hospitals and Clinics

Marwan S. Shinawi, MD
Division of Genetics and Genomic Medicine, Department of Pediatrics
Washington University School of Medicine
St. Louis, Missouri, USA

Ellen Sidransky, M.D.
Medical Genetics Branch National Human Genome Research Institute

Robert D. Steiner, MD
Marshfield Clinic Research Foundation
Department of Pediatrics, University of Wisconsin
Madison and Marshfield, WI USA

V. Reid Sutton, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas, USA

Dean R. Tolan, Ph.D.
Biology Department
Boston University
Boston, MA

Luis A. Umaña, MD
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX

Charles P. Venditti MD, PhD
Organic Acid Research Section
National Human Genome Research Institute National Institutes of Health

Wei Zheng, M.D., Ph.D
Therapeutics for Rare and Neglected Disease Program, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Edited by Brendan Lee and Fernando Scaglia

Oxford Monographs on Medical Genetics

Reviews and Awards

"This is an excellent volume on metabolism in general and inborn errors of metabolism in particular. It provides you the opportunity to understand various metabolic disorders, and the chemical and physiological processes involved in complex diseases." - Hiro Motiram, Bizindia.net