Spring, odd-numbered years
Course Director: Hillary Nelson, Ph.D.
This course on metabolic pathways will focus on diseases and other clinical conditions that have biochemical basis. We will try to understand the mechanisms and manifestations of the biochemical defects, ranging from dysregulation of the pathways to the implications of organ specificity of the defects. Clinical case topics will include familiar diseases such as diabetes, gout, and hypercholesterolemia, as well as rarer diseases such as: MCAD and CPT deficiencies (i.e. fatty acid oxidation defects); von Gierke’s and McArdles disease (i.e. glycogen storage diseases); and propionic acidemias (i.e. amino acid degradation diseases).
Prerequisites: undergraduate biochemistry; undergraduates require permission of course director
Tentative Syllabus:
| Topic | Problem Solving Session |
| 1 | Glycolysis | Hemolysis |
| 2 | Pentose phosphate shunt | Anemia |
| 3 | Hemoglobin | Polycythemia |
| 4 | CAC/Ox Phos | Excessive Metabolic Rate (Lufts' disease) |
| 5 | Glucose homeostasis | Unregulated Insulin Secretion (Insulinoma) |
| 6 | Glycogen metabolism | Muscular Atrophy/Fasting Hypoglycemia |
| 7 | Gluconeogenesis | Fasting Ketotic Hypoglycemia |
| 8 | Fatty acid oxidation | Muscle breakdown/Hypoglycemia (two cases) |
| 9 | Hyperglycemia | Diabetes |
| 10 | Nitogen turnover | Urea cycle/Amino acid metabolism (two cases) |
| 11 | Purine turnover | Gout |
| 12 | C1 metabolism | Folate/B12 deficiency |
| 13 | Cholesterol | Hypercholesterolemia |