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>> NAMA 1.0 - 2022
Course Outline
NAMA 1.0
Saturday, September 30, 2023 - Day 0
Preliminary Session
18:00
Dinner
19:00
Welcome and Overview Lecture
19:45
Pre-Course Self-Evaluation
Sunday, October 1, 2023 - Day 1
Defects of Protein Metabolism
06:30
Breakfast
08:00
Amino Acid Disorders (classic disorders)
09:00
Nitrogen Balance and Pathophysiology of Hyperammonemia
10:00
Urea Cycle Disorders
11:00
Break
11:30
Organic Acidemias
12:15
Disorders of Vitamin Metabolism (Cobalamin, Folate, Biotin, Pyridoxine)
13:00
Lunch
14:00
Biochemical Genetics Laboratory (Amino Acids, GC/MS, Tandem MS, NBS)
15:15
Introduction to Metabolic Nutrition
16:00
Break and Metabolic Tasting Experience
16:30
Workshop: Amino Acids, Organic Acids, Urea Cycle [Small Group]
18:30
Video “Let me do it alone!”
19:00
Dinner
20:15
Reception
Monday, October 2, 2023 - Day 2
Energy Substrates and Hypoglycemia: Defects of Carbohydrate, Fatty Acid, and Ketone Body Metabolism
06:30
Breakfast
08:00
Introduction to Hypoglycemia and Gluconeogenesis
09:00
Glycogen Storage Diseases
09:45
Break
10:00
Inborn Errors of Fructose and Galactose Metabolism
11:00
Fatty Acid Oxidation Defects and Ketone Body Metabolism
12:00
Lunch
13:00
Glucose Transporter Defects
13:45
Workshop: Hypoglycemia 1 [Small Group]
15:00
Break (15 min)
15:15
Workshop: Hypoglycemia 2 [Small Group]
16:30
Break (15 Min)
16:45
Workshop: Approaching Metabolic Disease from a Laboratory Perspective [Small Group]
18:30
Dinner
Tuesday, October 3, 2023 - Day 3
Mitochondrial Energy: Disorders of Oxidative Phosphorylation and Pyruvate Metabolism
Defects of Purines, Pyrimidines, Creatine, Neurotransmitter Metabolism
06:30
Breakfast
08:00
Diagnostic Approach to Lactic Acidemia and Defects of Pyruvate Metabolism
09:00
Mitochondrial Disease: Energy Metabolism
09:45
Break and Exhibitor Fair
10:45
Mitochondrial Disease: Respiratory Chain Defects
11:45
Workshop: Mitochondrial Energy Metabolism Disorders [Small Group]
13:15
Lunch
14:15
Workshop: Newborn Screening [Small Group]
15:15
Defects of Neurotransmitter and Creatine Metabolism
16:15
Break
16:45
The NAMA Debates!
18:30
Dinner
20:00
Reception
Wednesday, October 4, 2023 - Day 4
Disorders of Complex Molecules
06:30
Breakfast
08:00
Metabolism of Complex Molecules: New Paradigms in Pathophysiology and Diagnosis
09:00
Disorders of Non-Mitochondrial Fatty Acid Metabolism
10:00
Break
10:30
Congenital Disorders of Glycosylation
11:30
Lysosomal Storage Disease Overview
12:30
Lunch
13:30
The Metabolism Clinic, Part I [Small Group]
15:30
Break
16:00
The Metabolism Clinic, Part II [Small Group]
18:30
Dinner
Thursday, October 5, 2023 - Day 5
Diagnostic Approaches: You’re the Doc!
Adults
06:30
Breakfast
08:00
Adult Metabolic Emergencies [Large Group]
09:00
Workshop: Diagnostic Approach to Neurometabolic Syndromes in Adults 1 [Large Group]
10:30
Break
11:00
Workshop: Diagnostic Approach to Neurometabolic Syndromes in Adults 2 [Large Group]
12:30
Lunch
Pediatrics
13:30
Dysmorphic Features in Inborn Errors of Metabolism
14:30
Workshop I: Diagnostic Approach to Metabolic Disease in Infancy – Analysis in groups [Small Group]
16:00
Wine Break
16:15
Workshop II: Diagnostic Approach to Metabolic Disease in Infancy – Competition [Small Groups in Teams]
18:15
Dinner
20:00
Talent Show, Metabolic Jeopardy, and Reception
Friday, October 6, 2023 - Day 6
Concluding Session
06:30
Breakfast
08:00
Final Comments
08:30
Course Evaluation
08:45
Post-Course Self-Evaluation
Faculty List - Course Editors
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