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
GLUT1 deficiency (epileptic disorder) Autosomal dominant
Defect / target: GLUT1 glucose uniporter (most cells, mainly across the blood-brain barrier)
Mechanism: Deficient GLUT1 limits facilitated diffusion of glucose across the BBB, starving the brain of glucose and causing seizures.
· ↓ Deficient: Brain/CSF glucose
Presentation: Infantile-onset epilepsy, developmental delay, movement disorder
Labs: Low CSF glucose with normal blood glucose
Treatment: Ketogenic diet
GLUT1 = BBB; deficiency = epileptic disorder
Learn the mechanism: Glycolysis →
FMK 02.3 Membrane Transport; FMK 02.1 Glucose Transport, Glycolysis & TCA · slide 02.3: 15; 02.1: 6