Course introduction (1 hr) Overview of cellular intermediary metabolism, including chemical structures
Pre-course self-evaluation (1 hr)
08:00 Laboratory Session I (amino acids, GC/MS, tandem MS) (1 hr)
09:00 Didactic Session I: Urea cycle disorders (45 min)
09:45 Didactic Integration Workshop I: Urea cycle disorders (45 min)
10:30 Break
11:00 Didactic Session II: Organic acidemias (1 hr)
12:00 Didactic Session III: Disorders of vitamin metabolism (cobalamin,folate, biotin, pyridoxine) (1 hr)
13:00 Lunch
14:00 Didactic Integration Workshop II: Organic acidemias (1 hr)
15:00 Didactic Session IV: Amino acid disorders (PKU, homocystinuria, tyrosinemia)(1 hr)
16:00 Break
16:30 Management Workshop I: Therapy for common protein metabolism disorders (1.5 hr)
18:30 Dinner
08:00 Didactic Session I: Introduction to hypoglycemia and gluconeogenesis (45 min)
08:45 Didactic Session II: Glycogen storage diseases (1 hr)
09:45 Break
10:00 Didactic Session III: Inborn errors of fructose and galactose metabolism (1 hr)
11:00 Didactic Session IV: Fatty acid oxidation defects and ketone body metabolism (1 hr)
12:00 Lunch
13:00 Didactic Integration Workshop I: Disorders of ketotic hypoglycemia (1.5 hr)
14:30 Didactic Integration Workshop II: Disorders of hypoketotic hypoglycemia (1.5 hr)
16:30 Management Workshop I: Disorders of hypoglycemia and fasting intolerance (1.5 hr)
08:00 Didactic Session I: Mitochondrial energy metabolism (45 min)
08:45 Didactic Session II: Diagnostic approach to lactic acidemia and defects of pyruvate metabolism (1 hr)
10:15 Didactic Session III: Respiratory chain defects (1.15 hr)
11:30 Diagnosis and Management Workshop I: Mitochondrial energy metabolism disorders (1.5 hr)
14:00 Didactic Session IV: Disorders of metal cofactors (copper, molybdenum) (1 hr)
15:00 Didactic Session V: Congenital disorders of glycosylation (1 hr)
16:00 Didactic Session VI: Disorders of creatine metabolism (30 min)
16:30 Break
17:00 Didactic Session VII: Defects of neurotransmitter metabolism (1 hr)
08:00 Didactic Session I: Lysosomal storage diseases (30 min)
08:30 Didactic Session II: Radiology of inborn errors (1 hr)
09:30 Didactic Integration Workshop I: Physical manifestation of LSDs (somatic manifestations) (1 hr)
11:00 Didactic Integration Workshop II: Neurological manifestions of LSDs (1 hr)
13:00 Management Workshop I: Therapy of LSDs (1.5 hr)
14:30 Didactic Session III: Newborn Screening (1 hr)
15:30 Break
16:00 Philosophy and Style of Diagnosis (1.5 hr)
08:00 Didactic Session I: Neuroradiology (1 hr)
09:00 Didactic Session II: Peroxisomal biogenesis disorders (1 hr)
10:00 Break
10:30 Didactic Session III: Peroxisomal single enzyme disorders (1 hr)
11:30 Management Workshop 1: Peroxisomal disease (1 hr)
12:30 Lunch
13:30 Didactic Session IV: Dysmorphic features in inborn errors of metabolism (1hr)
14:30 Didactic Integration Workshop II: Approaching metabolic disease from a laboratory perspective (1.5 hr)
16:30 Didactic Integration Workshop III: Evaluation of abnormal newborn screening results (1.5 hr)
20:00 Jeopardy
08:00 Final comments (15 min)
08:15 Course evaluation (15 min)
08:30 Post-course self-evaluation (1 hr)