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.
Glycogen · FMK 03.6
Pompe disease (GSD Type II) Autosomal recessive
Defect / target: Lysosomal acid α-1,4-glucosidase (acid maltase, GAA gene)
Mechanism: Glycogen accumulates inside lysosomes of cardiac, smooth and skeletal muscle; lysosomes swell and rupture, replacing myofibrils with glycogen and debris; cytosolic glycogen metabolism is normal so blood glucose is normal.
↑ Accumulates: glycogen in lysosomes of heart, muscle, liver
Presentation: infantile-onset (IOPD): massive cardiomegaly (92% by 4 months), profound hypotonia/'floppy infant', head lag, feeding problems, macroglossia, moderate hepatomegaly, respiratory failure, death by ~10 months untreated; late-onset (LOPD): limb-girdle pattern weakness, early diaphragm/respiratory weakness, restrictive lung disease, heart relatively spared
Labs: normal blood glucose, ↑ CK/CPK, GAA enzyme assay on dried blood spot, GAA genetic testing
Treatment: Enzyme replacement therapy with recombinant α-glucosidase (alglucosidase alfa / Myozyme); gene therapy in trials
'Pompe PUMPS are broken' / 'Pompe Pumps Poorly' — heart pump + muscle pump fail; only LYSOSOMAL GSD
Learn the mechanism: Glycogen synthesis & breakdown →Lysosomal card →
FMK 03.6 Glycogen Metabolism · slide 22, 24, 29, 30; Lysosomal lecture (Pompe, IOPD, LOPD pages)