Clinical Studies In Medical Biochemistry 2nd Ed.

Description: This text uses a case-study format to relate the fundamentals of biochemistry to the practice of medicine. cases, carefully selected to cover common diseases and important principles, follow a consistent format. Each chapter begins with a detailed case Report which describes the relevant history, physical findings, and laboratory findings. This is followed by a section on Diagnosis, which includes a brief discussion of differential diagnosis and criteria needed for establishing the diagnosis. The next section, Biochemical Perspectives, forms the heart of each chapter. A discussion of normal metabolic reactions, pathways, and the consequences of the defect is followed by a brief discussion of therapeutic options (Therapy). Each chapter ends with several discussion questions and a brief bibliography.


Contents: PART I. NUCLEIC ACIDS, VIRUSES AND PROTEIN STRUCTURE AND FUNCTION; 1. Creatine Kinase Isoenzymes and the Diagnosis of Myocardial Infarction (Mercer/Varat/Amory); 2. Hereditary Spherocytosis (Ideguchi); 3. Fragile X Syndrome (Narahara/Yokoyama); 4. Human Immunodeficiency Viruses and the Acquired Immunodeficiency Syndrome (Jenison/Hjelle); 5. Pertussis (Kaslow/Pichichero); 6. Fulminant Hepatitis B (Mishiro/Kanai/Kojima); 7. Sickle Cell Anemia (Charache/Scott-Emuakpor); PART II. METABOLISM AND ENERGETICS; 8. Glucose 6-phosphate Dehydrogenase Deficiency (Beutler/Laubscer); 9. Neonatal Hypoglycemia (Holzman/Milley); 10. Jaundice and Gallstone Disease (Tazuma/Kajiyama); 11. Pernicious Anemia (VanderJagt/McCarthy); 12. Pyruvate Dehydrogenase Complex Deficiency; 13. Biotin and Multiple Carboxylase Deficiency (Dakshinamurti); 14. Lactose Intolerance (Woodfin/Arora); 15. Systemic Carnitine Deficiency (Paul/Sekas); 16. Diabetes Mellitus (Kitabchi/Fisher); PART III. METABOLISM OF COMPLEX MOLECULES; 17. Rhabdomyolysis (Murakami); 18. Abetalipoproteinemia: A Disorder of Lipoprotein Assembly (Remaley/Buley); 19. Low-density Lipoprotein Receptors and Familial Hypercholesterolemia (Margolis); 20. Alport Syndrome (Hereditary Nephritis) (Tryggvason/Ninomiya); 21. Pancreatic Exocrine Insufficiency (Reyes/Galey); 22. Lead Poisoning (Endo/Taketani); 23. Peroxisomal Disorders: Zellwger Syndrome and Adrenoleukodystropht (Suzuki/Orii); 24. Inborn Errors of Urea Synthesis (Brusilow); 25. Alpha 1-Antitrypsin Deficiency (Sharp/Schwarzenberg); 26. Gaucher Disease: A Sphingolipidosis (Scariano/Glew); 27. I-Cell Disease (Chambers/Williams); 28. Atypical Phenylketonuria (Remaley); PART IV. STEROIDS; 29. Cushing's Syndrome (Vela); 30. Rickets and Vitamin D (Chesney); PART V. ASPECTS OF INFECTION AND PHARMACOLOGY; 31. Angiotensin Converting Enzyme and Hypertension (Traub/Shapiro); 32. Chronic Granulomatous Disease (Thrasher/Segal)