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.
Lysosomal · FMK 04.1
Metachromatic leukodystrophy Autosomal recessive
Defect / target: Arylsulfatase A
Mechanism: Arylsulfatase A deficiency causes sulfatide accumulation, destroying central and peripheral myelin.
↑ Accumulates: Sulfatides (sulfated galactocerebroside)· ↓ Deficient: Arylsulfatase A
Presentation: demyelination, mental regression, psychiatric changes
Sulfatides = brain and kidney lipid; lose the sulfatase, lose the myelin
Learn the mechanism: Sphingolipid degradation & the sphingolipidoses →
FMK 04.1 Lipid Structure & Function · slide 19