Pompe Disease | Glycogen Storage Disease Mnemonic for USMLE

Pompe disease, also called glycogen storage disease type II (GSD-II), is an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body. It is caused by a mutation in lysosomal acid alpha-1,4-glucosidase (lysosomal acid maltase), which leads to the accumulation of glycogen in lysosomes. This accumulation of glycogen in various cells and organs leads to the signs and symptoms of Pompe disease. The glycogen accumulation leads to myopathy / progressive muscle weakness, notably limb-girdle muscle weakness. The myopathy may also cause respiratory distress, and Pompe disease often presents as exercise intolerance. Additionally, cardiomegaly / hypertrophic cardiomyopathy (HCM) is perhaps the most common presenting feature of Pompe disease. The diagnosis may be supported by histology, as the excess glycogen in lysosomes can be visualized with the PAS stain.
Learn about Pompe Disease (Glycogen Storage Disease Type II) with Pixorize's visual mnemonics for biochemistry. Part of our Glycogen Storage Diseases playlist for the USMLE Step 1 exam.
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[@python2.1]

Please keep up the good work and add such videos on other genetic diseases like PKU and CF etc. Your videos are a great help

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[@AbdulAhad-vn1zl]

Just saw this video for the first time. You've got a new subscriber. Thank you so much for making this so easy to memorize❤️

[@noursalem5070]

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[@jhelumchaubal396]

This helped me for understanding the basic outline of this disease. thank you!

[@Pixorize]

Thank you Jhelum!

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[@dougb4483]

For the first few minutes, I thought this was dumb. This is actually really really good. Thanks

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Exallent job! Thanks!

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Really good way to remember. Can’t wait for more

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Man ! This is so good

[@gonzalojimenez4316]

AWESOME!!!🎉

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Hey keep up the good work, I'll make sure other medical students hear about this.

[@Pixorize]

Thanks, and I'm glad you liked the video! We have some more stuff coming out soon!

[@NLKEquestrian]

super helpful thank you

[@rezaviworks4427]

the audio is real dim, could be better! keep updating and gl

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[@drmorriskmashandure7776]

Man this is pure genius. .more like sketchy though

[@sherinjose2119]

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[@cirina3]

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[@docghost4101]

But sir where does acid maltase work?? It's not a component of debranching enzyme so from where and how does it effect glycogenolysis. Wheere does it act. This enzyme is nowhere mentioned in the glycogenolysis metabolism. Please help I m confused. And papers bout to come

[@Drspraker]

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love from PAKistan

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[@worldaround6520]

Pompe crashes the pump

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spik arabik plis

[@pompeii7237]

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[@saniyaqamar4462]

is this sketchy medical with a new name??