Pompe Disease - GeneReviews® - NCBI Bookshelf - adult onset pompe disease one gene


Pompe disease - Genetics Home Reference - NIH adult onset pompe disease one gene

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.

Aug 31, 2007 · Glycogen storage disease type II (GSD II), or Pompe disease, is classified by age of onset, organ involvement, severity, and rate of progression. Classic infantile-onset Pompe disease may be apparent in utero but more often presents in the first two months of life with hypotonia, generalized muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties, failure to thrive Cited by: 27.

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.

You can have one gene and not have symptoms of the disease. as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to move slowly, and it doesn't usually.