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 Protein Targeting & Lysosomal Disorders
Hunter syndrome (MPS Type II) X-linked recessive
Defect / target: Iduronate sulfatase (IDS gene)
Mechanism: Dermatan and heparan sulfate accumulate in lysosomes; X-linked so males are affected and female carriers usually asymptomatic.
↑ Accumulates: dermatan sulfate, heparan sulfate· ↓ Deficient: iduronate sulfatase
Presentation: presents at 2–4 years: milder Hurler-like features, aggressive behavior, progressive developmental delay, hearing impairment, thickened heart wall, NO corneal clouding, vision loss from optic nerve pressure, nodular skin lesions (pebbling sign)
Labs: urine screen for dermatan sulfate and heparan sulfate
Treatment: Enzyme replacement therapy (Elaprase) — does not cross BBB
Hunter: X-linked, no corneal clouding (a hunter needs to see)
Learn the mechanism: Lysosomal card →
FMK Protein Targeting & Lysosomal Disorders · slide n/a (Hunter pages)