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    • >> NAMA 1.0 - 2022

Course Outline

NAMA 1.0

Saturday, September 30, 2023 - Day 0


Preliminary Session


18:00Dinner
19:00Welcome and Overview Lecture
19:45Pre-Course Self-Evaluation

Sunday, October 1, 2023 - Day 1


Defects of Protein Metabolism


06:30Breakfast
08:00Amino Acid Disorders (classic disorders)
09:00Nitrogen Balance and Pathophysiology of Hyperammonemia
10:00Urea Cycle Disorders
11:00Break
11:30Organic Acidemias
12:15Disorders of Vitamin Metabolism (Cobalamin, Folate, Biotin, Pyridoxine)
13:00Lunch
14:00Biochemical Genetics Laboratory (Amino Acids, GC/MS, Tandem MS, NBS)
15:15Introduction to Metabolic Nutrition
16:00Break and Metabolic Tasting Experience
16:30Workshop: Amino Acids, Organic Acids, Urea Cycle [Small Group]
18:30Video “Let me do it alone!”
19:00Dinner
20:15Reception

Monday, October 2, 2023 - Day 2


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


06:30Breakfast
08:00Introduction to Hypoglycemia and Gluconeogenesis
09:00Glycogen Storage Diseases
09:45Break
10:00Inborn Errors of Fructose and Galactose Metabolism
11:00Fatty Acid Oxidation Defects and Ketone Body Metabolism
12:00Lunch
13:00Glucose Transporter Defects
13:45Workshop: Hypoglycemia 1 [Small Group]
15:00Break (15 min)
15:15Workshop: Hypoglycemia 2 [Small Group]
16:30Break (15 Min)
16:45Workshop: Approaching Metabolic Disease from a Laboratory Perspective [Small Group]
18:30Dinner

Tuesday, October 3, 2023 - Day 3


Mitochondrial Energy: Disorders of Oxidative Phosphorylation and Pyruvate Metabolism


Defects of Purines, Pyrimidines, Creatine, Neurotransmitter Metabolism


06:30Breakfast
08:00Diagnostic Approach to Lactic Acidemia and Defects of Pyruvate Metabolism
09:00Mitochondrial Disease: Energy Metabolism
09:45Break and Exhibitor Fair
10:45Mitochondrial Disease: Respiratory Chain Defects
11:45Workshop: Mitochondrial Energy Metabolism Disorders [Small Group]
13:15Lunch
14:15Workshop: Newborn Screening [Small Group]
15:15Defects of Neurotransmitter and Creatine Metabolism
16:15Break
16:45The NAMA Debates!
18:30Dinner
20:00Reception

Wednesday, October 4, 2023 - Day 4


Disorders of Complex Molecules


06:30Breakfast
08:00Metabolism of Complex Molecules: New Paradigms in Pathophysiology and Diagnosis
09:00Disorders of Non-Mitochondrial Fatty Acid Metabolism
10:00Break
10:30Congenital Disorders of Glycosylation
11:30Lysosomal Storage Disease Overview
12:30Lunch
13:30The Metabolism Clinic, Part I [Small Group]
15:30Break
16:00The Metabolism Clinic, Part II [Small Group]
18:30Dinner

Thursday, October 5, 2023 - Day 5


Diagnostic Approaches: You’re the Doc!


Adults


06:30Breakfast
08:00Adult Metabolic Emergencies [Large Group]
09:00Workshop: Diagnostic Approach to Neurometabolic Syndromes in Adults 1 [Large Group]
10:30Break
11:00Workshop: Diagnostic Approach to Neurometabolic Syndromes in Adults 2 [Large Group]
12:30Lunch

Pediatrics


13:30Dysmorphic Features in Inborn Errors of Metabolism
14:30Workshop I: Diagnostic Approach to Metabolic Disease in Infancy – Analysis in groups [Small Group]
16:00Wine Break
16:15Workshop II: Diagnostic Approach to Metabolic Disease in Infancy – Competition [Small Groups in Teams]
18:15Dinner
20:00Talent Show, Metabolic Jeopardy, and Reception

Friday, October 6, 2023 - Day 6


Concluding Session


06:30Breakfast
08:00Final Comments
08:30Course Evaluation
08:45Post-Course Self-Evaluation
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