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 dehydrogenase complex (PDHC) deficiency X-linked dominant
Defect / target: PDH E1α subunit
Mechanism: Pyruvate cannot enter the TCA cycle as acetyl-CoA, so it is shunted to lactate (and alanine) and the brain is starved of TCA-derived energy.
↑ Accumulates: pyruvate, lactate· ↓ Deficient: acetyl-CoA, ATP in brain
Presentation: infancy: lactic acidosis, neurodegeneration, neurologic deficits
Labs: ↑ lactate, ↑ pyruvate
Treatment: Ketogenic diet (ketones bypass PDH)
XD (X-linked dominant, E1α)
Learn the mechanism: PDH & TCA cycle →Reasoning case →
FMK 02.1 Glucose Transport, Glycolysis & TCA · slide 16, 24