Glycogen storage disease type II - Wikipedia - adult pompe

Category

Pompe disease - Genetics Home Reference - NIH adult pompe


The so-called adult form of Pompe disease is not an autonomous entity with respect to the classic and juvenile ones, but differs from them mainly for the lower speed of accumulation of glycogen within the lysosomes which explains the late onset of skeletal muscle tissue changes and clinical manifestations.Cited by: 2.

Pompe disease causes muscle weakness and trouble breathing. If you're older when symptoms start -- as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to.

Sep 10, 2010 · Pompe disease is a form of muscular dystrophy caused by a mutation in the gene on chromosome 17 that codes for acid alpha-glucosidase, or GAA, an enzyme essential for breaking down glycogen. About one baby in 138,000 is born with the infantile form of the disease, and about 1 in 57,000 is destined to develop adult-onset Pompe.

Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder 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 Pronunciation: Pompe /ˈpɒmpə/.