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.
Amino acid · FMK 07.1
Citrullinemia (argininosuccinate synthetase deficiency) Autosomal recessive
Defect / target: Argininosuccinate synthetase (cytosolic; citrulline + aspartate → argininosuccinate)
Mechanism: Block downstream of citrulline formation causes citrulline to accumulate to very high levels while ammonia disposal fails.
↑ Accumulates: Citrulline (very high), ammonia· ↓ Deficient: Argininosuccinate, arginine, urea
Presentation: Rare neonatal hyperammonemia
Labs: Hyperammonemia with VERY HIGH citrulline; orotic acid variable
Treatment: Protein restriction, nitrogen scavengers
Sky-high citrulline → look downstream at argininosuccinate synthetase
Learn the mechanism: Urea cycle (+ the CPS-II collision) →
FMK 07.1 Amino Acid Metabolism I · slide 19, 32