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
Carbamoyl phosphate synthetase I (CPS-I) deficiency Autosomal recessive
Defect / target: Carbamoyl phosphate synthetase I (mitochondrial, rate-limiting urea cycle enzyme requiring N-acetylglutamate)
Mechanism: Ammonia cannot be incorporated into carbamoyl phosphate, so urea synthesis fails at its first step and ammonia accumulates without orotic acid spillover.
↑ Accumulates: Ammonia· ↓ Deficient: Carbamoyl phosphate, citrulline (low), urea
Presentation: Rare neonatal hyperammonemia (lethargy, vomiting, seizures, coma)
Labs: Hyperammonemia, LOW citrulline, low/normal orotic acid
Treatment: Protein restriction, nitrogen scavengers
Low citrulline like OTC but NO orotic acid
Learn the mechanism: Urea cycle (+ the CPS-II collision) →
FMK 07.1 Amino Acid Metabolism I · slide 18, 19