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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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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