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
N-acetylglutamate synthase deficiency Autosomal recessive
Defect / target: N-acetylglutamate synthase (makes NAG, the obligate allosteric activator of CPS-I)
Mechanism: Without NAG, CPS-I is inactive, so the urea cycle cannot start and congenital hyperammonemia results (mimics CPS-I deficiency).
↑ Accumulates: Ammonia· ↓ Deficient: N-acetylglutamate; carbamoyl phosphate; urea
Presentation: Congenital hyperammonemia
Labs: Hyperammonemia, low citrulline
Treatment: Textbook: carglumic acid (NAG analog)
No NAG, no urea synthesis
Learn the mechanism: Urea cycle (+ the CPS-II collision) →
FMK 07.1 Amino Acid Metabolism I · slide 16, 18, 32