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 07.2
Tyrosinemia type I Autosomal recessive
Defect / target: Fumarylacetoacetate hydrolase deficiency (fumarylacetoacetate → fumarate + acetoacetate block)
Mechanism: Block at the last step of tyrosine degradation causes toxic upstream metabolites (fumarylacetoacetate and, by textbook, succinylacetone) to accumulate and damage the liver.
↑ Accumulates: Fumarylacetoacetate/maleylacetoacetate, tyrosine
Presentation: Cabbage-like urine odor, severe liver disease
Labs: Cabbage-like urine odor
Treatment: Textbook: nitisinone (NTBC), dietary Phe/Tyr restriction
Cabbage odor = tyrosinemia; dark urine = alkaptonuria
Learn the mechanism: Catecholamines, serotonin & the tyrosine tree →
FMK 07.2 Amino Acid Metabolism II · slide 07.2: 5, 10, 12, 27; 07.1: 25