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 01.2
Niemann-Pick disease Autosomal recessive
Defect / target: Sphingomyelinase (acid sphingomyelinase) deficiency
Mechanism: Deficient sphingomyelinase cannot cleave sphingomyelin to ceramide + phosphorylcholine, so sphingomyelin accumulates in monocyte/macrophage cells.
↑ Accumulates: Sphingomyelin· ↓ Deficient: Sphingomyelinase
Presentation: hepatosplenomegaly, rapid neurodegeneration fatal in early childhood (type A), milder with minimal neural involvement and longer survival (type B)
Labs: Reduced sphingomyelinase activity; foam cells
Treatment: enzyme replacement therapy (sphingolipidoses)
No man PICKs his nose with his SPHINGER (sphingomyelinase)
Learn the mechanism: Lysosomal card →
FMK 01.2 Proteins, Carbohydrates, Lipids; FMK 04.1 Lipid Structure & Function; FMK Protein Targeting & Lysosomal Disorders · slide 01.2: 12; 04.1: 16, 19; Protein: n/a (Niemann-Pick page); FMK 04.4 slide 20, 30