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
Hartnup disease Autosomal recessive
Defect / target: Defective neutral amino acid transporter (gut and kidney) — tryptophan uptake impaired
Mechanism: Reduced tryptophan absorption limits endogenous niacin (vitamin B3) synthesis, producing pellagra-like symptoms.
↑ Accumulates: Neutral amino acids in urine· ↓ Deficient: Tryptophan, niacin (NAD)
Presentation: Pellagra-like dermatitis, diarrhea, dementia (classic triad); neurologic symptoms
Labs: Neutral aminoaciduria
Treatment: Niacin supplementation
'Niacin deficiency without a niacin-poor diet'; 3 Ds
Learn the mechanism: Protein digestion & amino acid absorption →
FMK 07.1 Amino Acid Metabolism I · slide 7