A member asked:

What is the definition or description of: pompe disease?

3 doctors weighed in across 2 answers
Dr. Alan Ali answered

Specializes in Psychiatry

Pompe disease: Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopathy throughout the body.

Answered 12/9/2013

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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) - 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 dz type II, acid maltase deficiency (AMD) & acid alpha-glucosidase deficienc

Answered 9/6/2020

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