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Course Outline

Sunday, September 11, 2011 ─ Day 0


Preliminary Session


18:00   Dinner

19:00   Welcome and Overview Lecture

19:45   Pre-Course Self-Evaluation

Monday, September 12, 2011 ─ Day 1


Defects of Protein Metabolism


08:00   Didactic Session I: Amino acid disorders (PKU, homocystinuria,
           tyrosinemia) (1 hr)

09:00   Didactic Session II: Urea cycle disorders (45 min)

09:45   Didactic Integration Workshop I: Urea cycle disorders (45 min)

10:30   Break

11:00   Didactic Session III: Organic acidemias (1 hr)

12:00   Didactic Session IV: Disorders of vitamin metabolism
           (cobalamin, folate, biotin, pyridoxine) (1 hr)

13:00   Lunch

14:00   Laboratory Session I (amino acids, GC/MS, tandem MS) (1 hr)

15:00   Didactic Integration Workshop II: Organic
           acidemias (1 hr)

16:00   Break

16:30   Management Workshop I: Therapy for common
           protein metabolism disorders (1.5 hr)

18:00   Video: "Let me do it alone!"

18:30   Dinner

Tuesday, September 13, 2011 ─ Day 2


Energy Substrates and Hypoglycemia: Defects of
Carbohydrate, Fatty Acid, and Ketone Body Metabolism


08:00   Didactic Session I: Introduction to Hypoglycemia and Gluconeogenesis
           (60 min)

09:00   Didactic Session II: Glycogen storage diseases (45 min)

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   Glucose Transport Defects and Hyperinsulism Syndromes
           (30 min)

13:30   Didactic Integration Workshop I: Disorders of
           hypoglycemia (2 hr)

15:30   Break

16:00   Management Workshop I: Disorders of
           hypoglycemia and fasting intolerance (2 hr)

18:30   Dinner

Wednesday, September 14, 2011 ─ Day 3


Mitochondrial Energy: Disorders of Oxidative
Phosphorylation and Pyruvate Metabolism


Defects of Metal Cofactors, Glycosylation, Creatine, and
Neurotransmitter Metabolism


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)

09:45   Break

10:15   Didactic Session III: Respiratory chain defects (1.25 hr)

11:30   Diagnosis and Management Workshop: Mitochondrial energy
           metabolism disorders (1.5 hr)

13:00   Lunch

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)

18:30   Dinner

Thursday, September 15, 2011 ─ Day 4


Lysosomal Storage and Newborn Screening


08:00   Didactic Session I: Lysosomal storage diseases (45 min)

08:45   Didactic Integration Workshop I: Physical manifestation of LSDs
           (somatic manifestations) (1 hr)

09:45   Didactic Integration Workshop II: Neurological
           manifestations of LSDs (1 hr)

10:45   Break

11:15   Didactic Session II: Radiology of inborn errors (1 hr)

12:15   Lunch

13:30   Management Workshop I: Therapy of LSDs (1.5 hr)

15:00   Didactic Session III: Newborn screening (1 hr)

16:00   Break

16:30   Philosophy and Style of Diagnosis (1.5 hr)

18:30   Dinner

20:00   Jeopardy

Friday, September 16, 2011 ─ Day 5


Diagnostic Approaches: Radiologic, Laboratory,
Newborn Screening, and Peroxisomal Diseases


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   Didactic Session IV: Dysmorphic features in inborn errors of
           metabolism (1 hr)

12:30   Lunch

13:30   Didactic Session V: Disorders of phospholipid synthesis (1 hr)

14:30   Didactic Integration Workshop II: Approaching
           metabolic disease from a laboratory perspective (1.5 hr)

16:00   Break

16:30   Didactic Integration Workshop III: Evaluation of abnormal newborn
           screening results (1.5 hr)

18:30   Dinner

Saturday, September 17, 2011 ─ Day 6


Concluding Session


08:00   Final comments (30 min)

08:30   Course evaluation (15 min)

08:45   Post-course self-evaluation (1 hr)

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