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 02.3
Fanconi-Bickel syndrome (GLUT2 deficiency) Autosomal recessive
Defect / target: GLUT2 glucose uniporter (pancreas, liver, kidney)
Mechanism: Loss of GLUT2 traps glucose/galactose in hepatocytes and proximal tubule cells and impairs pancreatic glucose sensing, causing glycogen storage and renal tubular losses.
↑ Accumulates: Glycogen in liver and kidney· ↓ Deficient: GLUT2 transport
Presentation: Hepatomegaly, fasting hypoglycemia with postprandial hyperglycemia, renal Fanconi syndrome (glucosuria, phosphaturia), rickets, growth failure
Labs: Glucosuria, aminoaciduria, phosphaturia
GLUT2 = pancreas, liver, kidney; deficiency = Fanconi-Bickel
Learn the mechanism: Glycolysis →
FMK 02.3 Membrane Transport · slide 15