Learn / FMK
Every FMK condition
299 diseases, deficiencies, toxicities and drug mechanisms harvested from every FMK deck — the ones sprinkled through a single bullet as much as the ones with their own slide. Pick what you're given and what you have to name, or let it cycle; distractors come from the same category so you have to discriminate (hypoketotic vs. ketotic hypoglycemia, which GSD, which urea-cycle enzyme…). Every answer shows the whole card with the lecture and slide.
Carbohydrate · FMK 02.1
PFK-1 deficiency (Tarui disease, GSD VII) Autosomal recessive
Defect / target: Phosphofructokinase-1 (muscle/RBC isoform)
Mechanism: Block at the rate-limiting glycolytic step backs up fructose-6-P and glycogen in muscle and starves RBCs of ATP; AMP catabolism raises uric acid.
↑ Accumulates: fructose-6-phosphate, glycogen in muscle, uric acid· ↓ Deficient: ATP
Presentation: exercise-induced cramps and myopathy, hemolytic anemia, gout
Labs: high fructose-6-P, hyperuricemia
Learn the mechanism: Glycolysis →
FMK 02.1 Glucose Transport, Glycolysis & TCA · slide 22