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
Farber disease Autosomal recessive
Defect / target: Ceramidase
Mechanism: Ceramidase block leaves ceramide undegraded in lysosomes.
↑ Accumulates: Ceramide· ↓ Deficient: Ceramidase
Presentation: hoarse cry, subcutaneous nodules, joint deformity
One missing enzyme, one accumulated lipid (one step up the degradation chain)
Learn the mechanism: Sphingolipid degradation & the sphingolipidoses →
FMK 04.1 Lipid Structure & Function · slide 18, 19