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
Gaucher disease Autosomal recessive
Defect / target: Glucocerebrosidase (beta-glucosidase) deficiency
Mechanism: Glucocerebroside cannot be cleaved and accumulates in macrophages (Gaucher cells) in liver, spleen, and bone.
↑ Accumulates: Glucocerebroside· ↓ Deficient: Glucocerebrosidase
Presentation: fatigue, thrombocytopenia (easy bruising), anemia, hepatosplenomegaly, neurologic degeneration, osteopenia, pathologic bone crises, avascular necrosis; GBA carriers at increased risk of Parkinson-like tremor in 50s–60s
Labs: bone marrow: Gaucher cells with striated 'crumpled/wrinkled tissue paper' cytoplasm, nucleus pushed to periphery
Treatment: Enzyme replacement (imiglucerase)
Sphingolipidoses: Niemann-Pick (sphingomyelinase), Gaucher (glucocerebrosidase)
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: 18, 19, 24; Protein: n/a (Gaucher page; histology page)