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.
Lipid · FMK 05.4
CPT II deficiency Autosomal recessive
Defect / target: Carnitine palmitoyltransferase II (inner mitochondrial membrane, predominant muscle isoform)
Mechanism: Acylcarnitine enters the matrix but cannot be reconverted to fatty acyl-CoA, so muscle cannot burn long-chain fat during prolonged exercise or fasting → rhabdomyolysis.
↑ Accumulates: long-chain acylcarnitines· ↓ Deficient: muscle fatty acyl-CoA for β-oxidation
Presentation: classic adult form: recurrent exercise- or fasting-induced muscle pain, rhabdomyolysis, myoglobinuria in adolescence/adulthood; infantile form: cardiomyopathy
Labs: ↑ CK during episodes, myoglobinuria, characteristic long-chain acylcarnitine elevation
Treatment: Avoid fasting, prolonged/intense exercise and cold exposure; high-carb low-LCFA diet; MCT oil
CPT I = outer membrane gatekeeper (malonyl-CoA); CPT II = inner membrane, regenerates acyl-CoA
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →
FMK 05.4 Fatty Acid Metabolism I · slide 18, 20; FMK 05.6 slide 18