A member asked:

What is the definition of pompe disease?

4 doctors weighed in across 2 answers

GSD type II: This website will be helpful: http://www.Ninds.Nih.Gov/disorders/pompe/pompe.Htm.

Answered 3/11/2013

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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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