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
I-cell disease (mucolipidosis II) Autosomal recessive
Defect / target: N-acetylglucosamine-1-phosphotransferase (fails to add mannose-6-phosphate tag) - misrouted lysosomal enzymes
Mechanism: Lysosomal enzymes lacking the mannose-6-phosphate tag are secreted instead of delivered to lysosomes, so undigested substrates accumulate in inclusion bodies.
↑ Accumulates: Oligosaccharides, GAGs, lipids in lysosomal inclusions· ↓ Deficient: Lysosomal enzymes inside lysosomes (elevated in plasma)
Presentation: Coarse facial features, skeletal abnormalities, clouded corneas, restricted joint movement, early death
Labs: High plasma lysosomal enzyme levels
I-cell = Inclusion cell; misrouted enzymes
Learn the mechanism: Lysosomal card →
FMK 01.2 Proteins, Carbohydrates, Lipids; FMK Protein Targeting & Lysosomal Disorders · slide 01.2: 10; Protein: n/a (LSD overview page)