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.
Carbohydrate · FMK 03.4
Galactokinase deficiency Autosomal recessive
Defect / target: Galactokinase
Mechanism: Galactose is not phosphorylated and is instead reduced by aldose reductase to galactitol, an osmotically active polyol trapped in lens fibers that swells the lens and denatures crystallins.
↑ Accumulates: galactose, galactitol (lens)
Presentation: early infantile oil-droplet cataracts, failure to track objects, photophobia; NO liver disease or intellectual disability
Labs: galactosuria (reducing sugar)
Treatment: Dietary restriction of galactose and lactose; cataracts may reverse if treated early
Galactokinase only = CATARACT only (milder)
Learn the mechanism: Galactose metabolism (Leloir pathway) →
FMK 03.4 Fructose, Galactose & Ethanol Metabolism · slide 11, 12, 23, 25, 26