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
Maternal PKU syndrome Acquired / not inherited
Defect / target: High maternal phenylalanine in a pregnant PKU patient not on a restricted diet
Mechanism: Fetal exposure to teratogenic maternal phenylalanine levels damages development even when the fetus does not have PKU.
↑ Accumulates: Maternal (and fetal) phenylalanine
Presentation: Microcephaly and congenital heart abnormalities in the infant
Treatment: Strict pre-conception and lifelong dietary Phe restriction for all PKU patients
acquired (in utero exposure)
Learn the mechanism: Catecholamines, serotonin & the tyrosine tree →
FMK 07.2 Amino Acid Metabolism II · slide 7