Uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. Each chapter provides a specific patient report that includes the relevant history, pertinent clinical laboratory data, physical findings, and subsequent diagnosis. Uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. Each chapter provides a specific patient report that includes the relevant history, pertinent clinical laboratory data, physical findings, and subsequent diagnosis. Contributors xi Part I Nucleic Acids and Protein Structure and Function Fragile X Syndrome 3(14) Yuji Yokoyama Shinsuke Ninomiya Koji Narahara Sickle Cell Anemia 17(13) Keith Quirolo Osteogenesis Imperfecta 30(12) Armando Flor-Cisneros Sergey Leikin ?1-Antitrypsin Deficiency 42(12) Sarah Jane Schwarzenberg Harvey L. Sharp Cardiac Troponin: Clinical Role in the Diagnosis of Myocardial Infarction 54(12) Fred S. Apple Allan S. Jaffe Hereditary Spherocytosis 66(11) Hiroshi Ideguchi Part II Fuel Metabolism and Energetics Pyruvate Dehydrogenase Complex Deficiency 77(12) Peter W. Stacpoole Lesa R. Gilbert Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): A Case of Mitochondrial Disease 89(12) Frank J. Castora Systemic Carnitine Deficiency: A Treatable Disorder 101(6) Eric P. Brass Harbhajan S. Paul Gail Sekas Neonatal Hypoglycemia and the Importance of Gluconeogenesis 107(16) Ian R. Holzman J. Ross Milley Part III Intermediary Metabolism Glucose 6-Phosphate Dehydrogenase Deficiency and Oxidative Hemolysis 123(11) Catherine Burton Richard Kaczmarski Biotinidase Deficiency: A Biotin-Responsive Disorder 134(10) Barry Wolf Adrenoleukodystrophy 144(8) Margaret M. McGovern Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia 152(7) Marina Cuchel Daniel J. Rader Tangier Disease: A Disorder in the Reverse Cholesterol Transport Pathway 159(8) Lien B. Lai Vijayaprasad Gopichandran Venkat Gopalan Gaucher Disease: A Sphingolipidosis 167(14) William C. Hines Robert H. Glew I-Cell Disease (Mucolipidosis II) 181(14) James Chambers Inborn Errors of Urea Synthesis 195(9) Pranesh Chakraborty Michael T. Geraghty Phenylketonuria 204(13) William L. Anderson Steven M. Mitchell HMG-CoA Lyase Deficiency 217(9) Virginia K. Proud Miriam D. Rosenthal Hyperhomocysteinemia 226(8) Angela M. Devlin Steven R. Lentz Neonatal Hyperbilirubinemia 234(11) Jeffrey C. Fahl David L. Vanderjagt Part IV Digestion, Absorption, and Nutritional Biochemistry Obesity: A Growing Problem 245(10) Miriam D. Rosenthal Lawrence M. Pasquinelli Protein-Energy Malnutrition 255(11) Vijayaprasad Gopichandran Lien B. Lai Venkat Gopalan Lactose Intolerance 266(12) Marcy P. Osgood Abiodun O. Johnson Pancreatic Insufficiency Secondary to Chronic Pancreatitis 278(12) Peter Layer Jutta Keller Abetalipoproteinemia 290(10) Paul Rava M. Mahmood Hussain Vitamin B12 Deficiency 300(13) Dorothy J. Vanderjagt Denis M. McCarthy Vitamin A Deficiency in Children 313(10) Nuttaporn Wongsiriroj Emorn Wasantwisut William S. Blaner Calcium-Deficiency Rickets 323(12) Dorothy J. Vanderjagt Robert H. Glew Hereditary Hemochromatosis 335(10) Scott A. Fink Raymond T. Chung Part V Endocrinology and Integration of Metabolism Type I Diabetes Mellitus 345(15) Srinivas Panja Aruna Chelliah Mark R. Burge Congenital Adrenal Hyperplasia: P450c21 Steroid Hydroxylase Deficiency 360(9) Gerald J. Pepe Miriam D. Rosenthal Index 369