Pompe Disease (with a mnemonic) | Glycogen Storage Disease type 2 (GSD II)…Biochemistry Playlist…Medicosis Biochemistry…Pompe disease causes heart diseases, cardiomyopathy, arrhythmias,…etc. It’s caused by genetic defect at the GAA gene on the long arm of chromosome 17…Pompe disease caused by deficiency of lysosomal acid alpha glucosidase (lysosomal alpha-1, 4 glucosidase, and lysosomal alpha-1,6 glucosidase activity) [i.e. debranching enzyme]…When glycogen accumulates in the liver, it stains positive with PAS stain (Periodic-acid Schiff). Eventually, this disease can lead to aneurysms, diaphragmatic paralysis, respiratory failure and death.
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12 сен 2023
