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
Alkaptonuria Autosomal recessive
Defect / target: Homogentisate oxidase deficiency (homogentisate → maleylacetoacetate block in tyrosine degradation)
Mechanism: Homogentisic acid accumulates, is excreted in urine where it oxidizes to a dark pigment, and deposits over decades as black pigment in cartilage and collagenous tissue.
↑ Accumulates: Homogentisic acid
Presentation: Urine darkens on standing (especially with alkalinization), ochronosis (black pigment in cartilage/connective tissue), early-onset arthritis of large joints; symptom onset ~age 40
Labs: Homogentisic aciduria — urine darkens on standing/alkalinization
Treatment: Dietary restriction of phenylalanine and tyrosine
Dark-on-standing urine (vs cabbage odor in tyrosinemia I); arthritis at 40
Learn the mechanism: Catecholamines, serotonin & the tyrosine tree →
FMK 07.2 Amino Acid Metabolism II · slide 07.2: 5, 10, 12, 15, 27; 07.1: 25