Test | Invitae Pompe Disease Test - adult onset pompe disease one gene


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

The adult form of Pompe disease has an incidence of one on 57.000 newborn per year. It manifests by convention after eighteen years of age.Cited by: 2. Sep 10, 2010 · Genetic source. 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. About 5,000-10,000 people in the United States are believed to have the disease.

Jan 25, 2016 · The combined incidence of all forms of Pompe disease at birth is estimated to be 1:40,000 in the US and similarly in Netherlands, with the adult onset form being 1:57,000 [9, 10]. However, recent data from newborn screening program of Missouri state, Austria and Taiwan suggest that incidence is higher with respectively 1:5463, 1:8684 and 1:11,987 [ 11 – 13 ].Cited by: 22. Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down.

Look for the genetic problem that causes Pompe disease; It can take about 3 months to diagnose Pompe disease in a baby. It can take as long as 7-9 years for kids and adults. The Invitae Pompe Disease test analyzes the GAA gene, which is the only known gene to cause Pompe disease (also called glycogen storage disease, type II [GSD II]).