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 04.1
Zellweger syndrome Autosomal recessive
Defect / target: Peroxisome biogenesis (PEX genes)
Mechanism: Absent functional peroxisomes prevents plasmalogen synthesis (and very-long-chain fatty acid oxidation), causing neurologic and cardiac dysfunction.
↑ Accumulates: Very-long-chain fatty acids· ↓ Deficient: Plasmalogens (ether phospholipids)
Presentation: neurologic problems, cardiac problems, hypotonia, craniofacial dysmorphism, early death
Labs: Elevated plasma VLCFA
Plasmalogens are made in peroxisomes (vinyl-ether at sn-1)
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →
FMK 04.1 Lipid Structure & Function; FMK 05.6 Fatty Acid Metabolism II · slide 04.1: 13; 05.6: 13, 19