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.
Glycogen · FMK 08.1
Von Gierke disease (GSD type I; secondary hyperuricemia) Autosomal recessive
Defect / target: Glucose-6-phosphatase deficiency
Mechanism: Glucose-6-phosphate cannot be dephosphorylated, so it is shunted into the HMP pathway raising ribose-5-P/PRPP and purine synthesis, while lactic acidosis competitively reduces renal urate excretion — both raise uric acid.
↑ Accumulates: Glucose-6-phosphate, glycogen, lactate, uric acid· ↓ Deficient: Free glucose (fasting hypoglycemia)
Presentation: Severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperuricemia/gout, hyperlipidemia
Labs: hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia/hypertriglyceridemia
Treatment: Frequent oral glucose/cornstarch; allopurinol for hyperuricemia
Listed with hereditary fructose intolerance as 'unrelated metabolic diseases with secondary purine overproduction'
Learn the mechanism: Glycogen synthesis & breakdown →Reasoning case →
FMK 08.1 Nucleic Acid Metabolism; FMK 03.6 Glycogen Metabolism · slide 08.1: 19; 03.6: 22, 23, 29, 30; FMK 03.1 slide 12, 21, 22, 23