Ornithine Transcarbamylase: Basic Science And Clinical Considerations

✍ Scribed by Philip J. Snodgrass M.D. (auth.)

• Publisher: Springer US
• Year: 2004
• Tongue: English
• Leaves: 254
• Edition: 1
• Category: Library

✦ Synopsis

Ornithine Transcarbamylase: Basic Science and Clinical Considerations, written by a leading expert on OTC, for the first time assembles and analyzes more than 40 years of basic science and clinical research. It will be the definitive resource on the topic for pediatricians, geneticists, and internists who care for patients with OTC deficiency, as well as for basic scientists and genetic researchers who study the urea cycle in mammals and the arginine biosynthetic pathway in bacteria and fungi.

✦ Table of Contents

Front Matter....Pages i-xv
Gene Structure, Regulation and Function....Pages 1-6
Synthesis, Processing and Assembly....Pages 7-11
Molecular and Kinetic Characteristics....Pages 12-23
Active Site and Other Essential Residues....Pages 24-48
Molecular Pathology of OTC Deficiency....Pages 49-84
Animal Models of OTC Deficiency and Their Gene Therapy....Pages 85-105
Clinical and Laboratory Findings in OTC Deficiency....Pages 106-149
Diagnosis and Treatment of OTC Deficiency....Pages 150-164
Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals....Pages 165-181
Back Matter....Pages 183-243

✦ Subjects

Biochemistry, general; Human Genetics; Internal Medicine; Pediatrics