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 I deficiency Autosomal recessive
Defect / target: Carnitine palmitoyltransferase I (outer mitochondrial membrane, hepatic isoform; malonyl-CoA-regulated gatekeeper)
Mechanism: Long-chain fatty acids cannot be converted to acylcarnitine for entry into hepatic mitochondria, so fasting β-oxidation and ketogenesis fail; muscle is spared because the affected isoform is hepatic.
↑ Accumulates: long-chain fatty acyl-CoA (cytosolic)· ↓ Deficient: acylcarnitines (low), ketones, glucose
Presentation: infancy, hepatic: hypoketotic hypoglycemia, hepatomegaly triggered by fasting; muscle spared
Labs: hypoketotic hypoglycemia, low acylcarnitines
Treatment: Avoid fasting; high-carbohydrate, low long-chain-fat diet; MCT oil bypasses the transport step
Same shuttle, two checkpoints, two clinical pictures
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →
FMK 05.4 Fatty Acid Metabolism I · slide 18, 20; FMK 05.6 slide 18