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.
Carbohydrate · FMK 01.2
Galactosemia (GALT deficiency) Autosomal recessive
Defect / target: Galactose-1-phosphate uridyltransferase (GALT)
Mechanism: Galactose-1-phosphate cannot be converted to UDP-galactose and accumulates as a direct toxin in liver, brain, kidney and lens; galactose is also shunted to galactitol by aldose reductase.
↑ Accumulates: Galactose-1-phosphate, galactose, galactitol· ↓ Deficient: UDP-galactose (from galactose)
Presentation: days after starting milk: vomiting, poor feeding, jaundice, hepatomegaly, failure to thrive; E. coli neonatal sepsis (galactose impairs WBC function), cataracts, intellectual disability if untreated
Labs: Reduced RBC GALT activity, reducing substance in urine
Treatment: Exclude galactose/lactose from diet
GALT deficiency = GALT of all problems (liver, brain, kidneys, eyes, sepsis); E. coli neonatal sepsis = classic clue
Learn the mechanism: Galactose metabolism (Leloir pathway) →Reasoning case →
FMK 01.2 Proteins, Carbohydrates, Lipids; FMK 03.4 Fructose, Galactose & Ethanol Metabolism · slide 01.2: 10; 03.4: 10, 11, 12, 23, 24, 25, 26