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
Pyruvate kinase (PK) deficiency Autosomal recessive
Defect / target: Pyruvate kinase (RBC isoform)
Mechanism: PEP cannot be converted to pyruvate so RBCs, which have no mitochondria and depend entirely on glycolysis, run out of ATP; Na⁺/K⁺-ATPase fails, cells swell and are hemolyzed prematurely.
↑ Accumulates: PEP and upstream glycolytic intermediates· ↓ Deficient: ATP in RBCs
Presentation: most common glycolytic enzyme deficiency; jaundice, pallor, splenomegaly, mild–severe hemolytic anemia (Hb 6–10), may need transfusions; heterozygotes resistant to P. falciparum malaria
Labs: echinocytes (burr cells), ↑ reticulocytes, ↑ unconjugated bilirubin
Treatment: transfusions in severe cases
Learn the mechanism: Glycolysis →Reasoning case →
FMK 02.1 Glucose Transport, Glycolysis & TCA; FMK 08.4 Heme Metabolism · slide 02.1: 10, 22, 24, 25; 08.4: handout