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Pompe and Circumstance?
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Pompe and Circumstance?
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I've just had a flyer through my inbox asking me to look out for patients with Pompe disease - Acid Maltase Deficiency.   I have to say that I've never seen a case of it.  But maybe that's b
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Forums » Open clinical » Respiratory medicine » Pompe and Circumstance?

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Forums  »  Open clinical  »  Respiratory medicine  »  Pompe and Circumstance?

Pompe and Circumstance?

posted at 8/2/2012 3:08 PM GMT on bmj.com
Posts: 683
First: 19/4/2010
Last: 17/5/2012
I've just had a flyer through my inbox asking me to look out for patients with Pompe disease - Acid Maltase Deficiency.  

I have to say that I've never seen a case of it.  But maybe that's because I haven't looked.

Re: Pompe and Circumstance?

posted at 8/2/2012 8:42 PM GMT on bmj.com
Posts: 2075
First: 10/3/2009
Last: 18/5/2012
Can you give us the Ladybird Book version of Pompe's disease for us non-Pompeians; gruel for my bowl, Sir (oats for you). 

It will save my referring to Lord Google or my French Harrison's which is great on both souffles and soufflé.
Julius Caesar. 

PS. Harrison ( even French) is good at listing the disease but not so good at teaching you how to think of it or giving a recipe card. Chromosome locus 17q25 is not on my recipe card list and thus I have probably missed dozens of La maladie de Pompe this week. 

Teach us Pompe's disease. Don't vomit it. 

Re: Pompe and Circumstance?

posted at 8/2/2012 10:13 PM GMT on bmj.com
*Moderator*
Posts: 597
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.

Did the flier say why you should look out for it? Is there a new cure, rise in prevalence, evidence of underdiagnosis?

Re: Pompe and Circumstance?

posted at 9/2/2012 12:52 AM GMT on bmj.com
Posts: 2075
First: 10/3/2009
Last: 18/5/2012
Such information does not give me some easy recipes. 

I prefer the words of an experienced traveller to an atlas. 


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