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
Albinism (oculocutaneous albinism type 1, OCA1) Autosomal recessive
Defect / target: Absent/defective copper-requiring tyrosinase (tyrosine → L-DOPA → DOPA-quinone in melanocytes)
Mechanism: Defective melanin synthesis inside melanocytes — a true synthesis defect, unlike PKU's hypopigmentation which is competitive inhibition of tyrosinase by excess Phe.
· ↓ Deficient: Melanin in skin, hair, eyes
Presentation: Partial or complete absence of pigment in skin, hair, eyes; photophobia; vision defects (melanin needed for retinal/optic nerve development)
Hypopigmentation + photophobia; albinism = melanin not made, PKU = melanin inhibited
AR (primary); also AD and XR forms
Learn the mechanism: Catecholamines, serotonin & the tyrosine tree →
FMK 07.2 Amino Acid Metabolism II · slide 5, 11, 12, 15, 27