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
Tay-Sachs disease Autosomal recessive
Defect / target: Hexosaminidase A
Mechanism: Hexosaminidase A block leaves GM2 ganglioside piling up in neurons, one step up the degradation chain.
↑ Accumulates: GM2 ganglioside· ↓ Deficient: Hexosaminidase A
Presentation: onset ~6 months, life expectancy 3–5 years; muscle weakness progressing to paralysis, convulsions/seizures, cherry-red spot on macula, NO contractures, NO hepatosplenomegaly
Labs: Absent hexosaminidase A activity; cherry-red spot on fundoscopy
Treatment: enzyme replacement therapy (sphingolipidoses managed with ERT; lifespan depends on age of diagnosis)
The 7-month-old case: Hex A missing, GM2 ganglioside piling up; no hepatosplenomegaly
Learn the mechanism: Lysosomal card →
FMK 04.1 Lipid Structure & Function; FMK Protein Targeting & Lysosomal Disorders · slide 04.1: 18, 19, 23; Protein: n/a (Tay-Sachs page; Think-Pair-Share)