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.
Lysosomal · FMK 04.1
Krabbe disease Autosomal recessive
Defect / target: Galactosylceramidase (GALC)
Mechanism: GALC deficiency causes galactosylceramide (and psychosine) accumulation that kills oligodendrocytes and destroys myelin.
↑ Accumulates: Galactosylceramide (galactocerebroside)· ↓ Deficient: Galactosylceramidase (GALC)
Presentation: infantile onset in first 6 months, life expectancy ~2 years: failure to thrive, muscle weakness, restlessness/irritability, fevers without infection, optic atrophy/blindness, deafness, seizures, loss of milestones, decerebrate posturing
Labs: brain histology: large multinucleated globoid cells in white matter
Treatment: enzyme replacement therapy
Learn the mechanism: Lysosomal card →
FMK 04.1 Lipid Structure & Function; FMK Protein Targeting & Lysosomal Disorders · slide 04.1: 19; Protein: n/a (Krabbe page; histology page)