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
MCAD deficiency Autosomal recessive
Defect / target: Medium-chain acyl-CoA dehydrogenase (first step of β-oxidation for C6–C10 fatty acids)
Mechanism: Fatty acid oxidation stalls at medium-chain length so the fasting liver cannot make acetyl-CoA for ketogenesis or ATP for gluconeogenesis, producing hypoketotic hypoglycemia; most common inherited FAO disorder.
↑ Accumulates: medium-chain acylcarnitines (C8 octanoylcarnitine), medium-chain fatty acids· ↓ Deficient: ketone bodies, acetyl-CoA, glucose, ATP
Presentation: infant/toddler unmasked by fasting stress (viral illness with vomiting, overnight fast): lethargy, vomiting, hepatomegaly, seizures, coma, sudden death (case: 14-month-old, glucose 32, ketones trace/negative)
Labs: hypoketotic hypoglycemia (inappropriately low/absent urine ketones), acylcarnitine profile with ↑ C8 on newborn screen (tandem MS)
Treatment: Avoid prolonged fasting; IV dextrose during acute illness; newborn screening
Hypoglycemia + absent ketones = block in fatty acid oxidation (vs starvation: hypoglycemia + HIGH ketones)
Learn the mechanism: Lipolysis, carnitine shuttle & β-oxidation →Reasoning case →
FMK 05.4 Fatty Acid Metabolism I · slide 2, 5, 18, 19; FMK 05.6 slide 16, 18