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
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) Mitochondrial (maternal)
Defect / target: mtDNA m.8344A>G in mt-tRNA^Lys (most common)
Mechanism: mt-tRNA^Lys mutation impairs OXPHOS subunit synthesis; mitochondrial aggregates accumulate in muscle fibers (ragged red).
↑ Accumulates: mitochondrial aggregates in muscle (ragged-red fibers), lactate· ↓ Deficient: ATP
Presentation: myoclonus (hallmark), epilepsy, ataxia, hearing loss
Labs: ragged-red fibers on Gomori trichrome stain
Ragged red = mitochondrial aggregates
Learn the mechanism: Electron transport & OXPHOS →
FMK 02.4 Mitochondrial Metabolism and Energy Disorders · slide 21