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
Fabry disease X-linked recessive
Defect / target: α-Galactosidase A
Mechanism: α-Galactosidase deficiency causes globosides (ceramide trihexoside) to accumulate in vascular endothelium, kidney, nerves and skin.
↑ Accumulates: Globosides (ceramide trihexoside)· ↓ Deficient: α-Galactosidase
Presentation: males symptomatic in early childhood: inability to sweat, acroparesthesias (hand/foot pain), heat/cold intolerance, angiokeratomas, whorl keratopathy (vision unaffected), renal failure, strokes, ventricular hypertrophy (more common in females), mitral valve prolapse/regurgitation, fibrosis → arrhythmia; cardiovascular disease is the most common cause of death
Treatment: Enzyme replacement
The only X-linked sphingolipidosis — all the rest are autosomal recessive
Learn the mechanism: Lysosomal card →
FMK 04.1 Lipid Structure & Function; FMK Protein Targeting & Lysosomal Disorders · slide 04.1: 18, 19; Protein: n/a (Fabry page)