Forums » Open clinical » Respiratory medicine » Pompe and Circumstance?
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Pompe and Circumstance?
posted at 8/2/2012 3:08 PM GMT
on bmj.com
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Re: Pompe and Circumstance?
posted at 8/2/2012 8:42 PM GMT
on bmj.com
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Re: Pompe and Circumstance?
posted at 8/2/2012 10:13 PM GMT
on bmj.com
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First: 17/11/2008 Last: 18/5/2012 |
Who was the flyer from and do you get this often? Seems strange to have a flier saying watch out for X/ Are you meant to downgrade watching out for something more common?Pompe's disease has a good entry on Wikipedia the medical textbook I am growing to feel increasingly fond of- being up to date and reliable enough if you're not treating patients. It says Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is an autosomal recessive metabolic disorder[1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system. |





