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.
Heme · FMK 08.4
Crigler-Najjar syndrome type I Autosomal recessive
Defect / target: Complete absence of UGT1A1
Mechanism: No bilirubin glucuronidation occurs, so lipophilic unconjugated bilirubin accumulates to severe levels, crosses the blood-brain barrier and deposits in the basal ganglia.
↑ Accumulates: Unconjugated bilirubin (severe)· ↓ Deficient: Conjugated bilirubin
Presentation: Severe nonhemolytic jaundice in infancy, kernicterus, historically fatal early
Labs: Severe unconjugated hyperbilirubinemia, no response to phenobarbital
Treatment: Phototherapy, plasmapheresis, liver transplant
Type I = no enzyme = no phenobarbital response
Learn the mechanism: Heme degradation & bilirubin (jaundice) →
FMK 08.4 Heme Metabolism · slide 21, 28; handout