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
Primary (systemic) carnitine deficiency Autosomal recessive
Defect / target: OCTN2 plasma-membrane carnitine transporter
Mechanism: Impaired cellular carnitine uptake plus renal carnitine wasting means fatty acyl-CoA can never be converted to acylcarnitine — the shuttle has no vehicle — so long-chain FAO fails in liver, heart and muscle.
↑ Accumulates: fatty acyl-CoA (cytosol), lipid in heart/muscle· ↓ Deficient: plasma free carnitine (very low), acylcarnitines (low overall), ketones, glucose
Presentation: infancy to early childhood: hypoketotic hypoglycemia, hepatomegaly, hypotonia; progresses to dilated cardiomyopathy and skeletal myopathy (cardiac phenotype distinguishes it)
Labs: very low plasma free carnitine; acylcarnitine profile low overall (vs high specific species in MCAD/CPT)
Treatment: High-dose oral L-carnitine — most directly treatable FAO disorder; can reverse cardiomyopathy if started early
LOW free carnitine → transporter defect; normal-to-high specific acylcarnitine species → enzyme block downstream
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →Reasoning case →
FMK 05.4 Fatty Acid Metabolism I · slide 18, 21; FMK 05.6 slide 18