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 03.1
G6PD deficiency (incl. favism) X-linked recessive
Defect / target: Glucose-6-phosphate dehydrogenase (rate-limiting HMP shunt enzyme)
Mechanism: RBCs cannot generate NADPH (no other source), so glutathione stays oxidized, H₂O₂ accumulates, hemoglobin denatures into Heinz bodies and rigid RBCs are removed by the spleen → episodic hemolysis under oxidant stress.
↑ Accumulates: H₂O₂, oxidized glutathione (GSSG), Heinz bodies· ↓ Deficient: NADPH, reduced glutathione (G-SH)
Presentation: episodic hemolytic anemia after triggers (infections most common, fava beans/favism, sulfa antibiotics, primaquine/chloroquine, high-dose aspirin, nitrofurantoin), jaundice, dark urine (hemoglobinuria), splenomegaly, neonatal jaundice (1–4 days); most common enzyme deficiency worldwide (>400 million), protective against falciparum malaria
Labs: Heinz bodies + bite cells on smear, ↑ unconjugated bilirubin, G6PD enzyme assay (may be falsely normal during acute hemolysis because young RBCs have more enzyme)
Treatment: Remove trigger, supportive care, transfusion if severe
G6PD A⁻ (African): self-limiting because young RBCs have near-normal enzyme; Mediterranean: severe, near-zero activity in all RBCs
Learn the mechanism: HMP shunt (pentose phosphate pathway) →Reasoning case →
FMK 03.1 Gluconeogenesis & HMP Shunt; FMK 08.4 Heme Metabolism · slide 03.1: 19, 20, 21, 22, 23, 25; 08.4: 26; handout