A member asked:

What exactly is pompe disease?

4 doctors weighed in across 3 answers

Glycogen Storage: A genetic disease where there is accumulation of glycogen in muscle, heart, and liver because of a deficiency in the enzyme, acid maltase, which helps to convert glycogen into the usable glucose fuel for the body. There are 3 types. Please refer to this site for more info http://ghr.Nlm.Nih.Gov/condition/pompe-disease.

Answered 7/14/2012

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Glycogen storage: Pompes disease is a glygogen storage disorder type ii , due to lack of an enzyme glycogen ( the way you store glucose in muscle and liver) can not be broken down.Glycogen excess in muscle causes severe muscle weakness(hypotonia) and eventuallybrespiratory failure(due to respiratory muscle involvement).

Answered 9/6/2020

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Dr. Heidi Fowler answered

Specializes in Psychiatry

Pompe Disease: Pompe Disease is a rare genetic disorder (1 in 40,000 births) in which an enzyme called acid alpha-glucosidase either doesn't function correctly or there is too little of it in lysosomes. This causes glycogen to build up in lysosomes & leads to damage to the heart, liver, nervous system & skeletal muscles. AKA: glycogen storage disease type II

Answered 9/6/2020

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