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.
Mitochondrial · FMK 02.4
Primary mitochondrial disease / mitochondrial myopathy (general pattern) Mitochondrial (maternal)
Defect / target: Mutations in mtDNA (maternal) or nuclear DNA encoding ETC/TCA proteins (e.g., POLG, ANT defects — Mendelian)
Mechanism: Defective OXPHOS causes organs to fail in proportion to their ATP dependence (brain > heart > skeletal muscle > retina > kidney > liver); heteroplasmy above ~70–80% mutant load produces symptoms.
↑ Accumulates: lactate, NADH· ↓ Deficient: ATP
Presentation: exercise intolerance, myopathy, seizures, stroke-like episodes, encephalopathy, cardiomyopathy, arrhythmia, vision loss, Fanconi syndrome/renal tubular acidosis, hepatopathy, fatty liver, neuropathy; maternal family history, males affected but do not transmit
Labs: ↑ lactate
Treatment: supportive
Common thread: maternal inheritance, high-energy organs, lactic acidosis, exercise intolerance; don't assume maternal — POLG/ANT are Mendelian
mitochondrial (or AR/AD for nuclear-encoded genes)
Learn the mechanism: Electron transport & OXPHOS →
FMK 02.4 Mitochondrial Metabolism and Energy Disorders · slide 6, 21, 24, 26; FMK 02.1 slide 23