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
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes) Mitochondrial (maternal)
Defect / target: mtDNA m.3243A>G in mt-tRNA^Leu (most common)
Mechanism: A mt-tRNA mutation impairs mitochondrial translation of OXPHOS subunits, causing energy failure in brain and muscle with lactate accumulation.
↑ Accumulates: lactate (blood and CSF)· ↓ Deficient: ATP
Presentation: childhood/young-adult onset, exercise intolerance, muscle weakness, stroke-like episodes, seizures, migraine-like headaches
Labs: ↑ blood and CSF lactate, abnormal MRI
Treatment: Supportive; CoQ10, riboflavin
Name is the mnemonic: Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes
Learn the mechanism: Electron transport & OXPHOS →
FMK 02.4 Mitochondrial Metabolism and Energy Disorders · slide 17, 21, 25