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 03.6
Von Gierke disease (glycogen storage disease type I) 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
Von GIERKE = Glucose-6-phosphatase. The liver can make glucose-6-phosphate but cannot free the glucose, so it never reaches the blood and spills into lactate instead — fasting hypoglycemia WITH lactic acidosis.
FMK 08.1 revisits it beside hereditary fructose intolerance as an 'unrelated metabolic disease with secondary purine overproduction' — two different blocks that both end in a high uric acid.
Learn the mechanism: Glycogen synthesis & breakdown →Reasoning case →
FMK 03.6 Glycogen Metabolism · slide 03.6: 22, 23, 29, 30; 08.1: 19; FMK 03.1 slide 12, 21, 22, 23 · also mentioned in FMK 08.1 Nucleic Acid Metabolism