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
Pyruvate carboxylase deficiency Autosomal recessive
Defect / target: Pyruvate carboxylase (biotin-dependent)
Mechanism: Pyruvate cannot be carboxylated to OAA, so pyruvate accumulates as lactate, gluconeogenesis fails and TCA anaplerosis is lost (↓ OAA → ↓ TCA flux in brain).
↑ Accumulates: pyruvate, lactate, ammonia· ↓ Deficient: oxaloacetate, glucose
Presentation: lactic acidosis, hypoglycemia, hyperammonemia, neurologic deficits
Labs: ↑ lactate, ↓ glucose, ↑ NH₃
Any condition that depletes OAA or pyruvate (entry points to GNG) → hypoglycemia + lactic acidosis
Learn the mechanism: Gluconeogenesis →
FMK 03.1 Gluconeogenesis & HMP Shunt · slide 12