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
Leber hereditary optic neuropathy (LHON) Mitochondrial (maternal)
Defect / target: Complex I subunit mutations (ND1, ND4, ND6 most common)
Mechanism: mtDNA Complex I subunit mutations cause energy failure in the highly ATP-dependent retinal ganglion cells/optic nerve.
· ↓ Deficient: ATP in retina/optic nerve
Presentation: painless subacute bilateral (may be sequential) vision loss in young adults (M>F, ages 15–35), central scotoma, color vision loss
mitochondrial (variable penetrance)
Learn the mechanism: Electron transport & OXPHOS →
FMK 02.4 Mitochondrial Metabolism and Energy Disorders · slide 6, 21