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.
Lipid · FMK 05.6
X-linked adrenoleukodystrophy (X-ALD) X-linked recessive
Defect / target: ABCD1 transporter — defective VLCFA import across the peroxisomal membrane
Mechanism: VLCFAs cannot enter the peroxisome for β-oxidation and accumulate in myelin and adrenal cortex, causing demyelination and adrenal failure.
↑ Accumulates: very-long-chain fatty acids· ↓ Deficient: adrenal steroids (Addison disease)
Presentation: progressive demyelination, adrenal insufficiency (Addison disease)
Labs: ↑ plasma VLCFA
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →
FMK 05.6 Fatty Acid Metabolism II · slide 13, 19