Table of Contents
Part I: Nucleic Acids and Protein Structure and Function. 1. Fragile X Syndrome, Yuji Yokoyama, Shinsuke Ninomiya, and Koji Narahara2. Sickle Cell Anemia, Keith Quirolo and Elliott Vichinsky3. Osteogenesis Imperfecta, Sergey Leikin and Armando Flor-Cisneros4. α1-Antitrypsin Deficiency, Sarah Jane Schwarzenberg and Harvey L. Sharp5. Cardiac Troponin: Clinical and Analytical Role in the Diagnosis of Myocardial Infarction and RIsk Stratification of Acute Coronary Syndrome Patients, Fred S. Apple and Allan S. Jaffe6. Hereditary Spherocytosis, Hiroshi IdeguchiPart II: Fuel Metabolism and Energetics. 7. Pyruvate Dehydrogenase Complex Deficiency, Peter W. Stacpoole and Lesa R. Gilbert8. Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Case of Mitochondrial Disease, Frank J. Castora9. Systemic Carnitine Deficiency, Eric P. Brass, Harbhajan S. Paul, and Gail Sekas10. Neonatal Hypoglycemia and the Importance of Gluconeogenesis, Ian R. Holzman and J. Ross MilleyPart III: Intermediary Metabolism. 11. Glucose-6-Phosphate Dehydrogenase Deficiency, Catherine Burton and Richard Kaczmarksi12. Biotin and Multiple Carboxylase Deficiency, Barry Wolf13. Adrenoleukodystrophy, Margaret M. McGovern14. Low Density Lipoprotein Receptors and Familial Hypercholesterolemia, Daniel J. Rader and Marina Cuchel15. Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway, Lien B. Lai, Vijayaprasad Gopichandran, and Venkat Gopalan16. Gaucher Disease, William C. Hines and Robert H. Glew17. I-Cell Disease, James Chambers18. Inborn Errors of Urea Synthesis, Michael T. Geraghty and Pranesh Chakraborty19. Phenylketonuria, William L. Anderson and Steven M. Mitchell20. HMG-CoA Lyase Deficiency, Virginia K. Proud and Miriam D. Rosenthal21. Hyperhomocysteinemia, Steven R. Lentz and Angela M. Devlin22 Ic Neonatal Jaundice, Jeffrey C. Fahl and David L. VanderJagt. Part IV: Digestion, Absorption, and Nutritional Biochemistry. 23. Obesity: Unfortunately a Growing Problem, Miriam D. Rosenthal and Lawrence M. Pasquinelli24Protein Energy Malnutrition, Vijayaprasad Gopichandran, Lien B. Lai, and Venkat Gopalan. 25. Lactose Intolerance, Marcy P. Osgood and Abiodun O. Johnson26 Ic Pancreatic Insufficiency Secondary to Chronic Pancreatitis, Peter Layer and Jutta Keller. 27. Abetalipoproteinemia, M. Mahmood Hussain and Paul Rava28 Ic Pernicious Anemia, Dorothy J. VanderJagt and Denis M. McCarthy. 29. Vitamin A Deficiency in Children, William S. Blaner, Nuttaporn Wongsirioj, and Emorn Wasantwisut30. Calcium Deficiency Rickets, Dorothy J. VanderJagt and Robert H. Glew31. Hereditary Hemochromatosis, Scott A. Fink and Raymond T. ChungPart V: Endocrinology and Integration of Metabolism. 32. Type I Diabetes Mellitus, Mark R. Burge, Srinivas Panja, and Aruna Chelliah33. Congenital Adrenal Hyperplasia: P440 C21 Steroid Hydroxylase Deficiency, Miriam D. Rosenthal and Gerald J. Pepe