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
Refsum disease Autosomal recessive
Defect / target: Phytanoyl-CoA hydroxylase (peroxisomal α-oxidation)
Mechanism: Branched-chain phytanic acid (from dietary chlorophyll) cannot be α-oxidized and accumulates in nerve, retina and skin.
↑ Accumulates: phytanic acid
Presentation: retinitis pigmentosa, peripheral neuropathy, ataxia, anosmia
Labs: ↑ phytanic acid
Treatment: Diet-manageable (avoid phytanic acid / chlorophyll-rich foods)
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →
FMK 05.6 Fatty Acid Metabolism II · slide 19