WebApr 1, 2010 · Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac ... WebPompe disease (OMIM #232300) is a lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene located on the long arm of chromosome 17q25.2 …

Pompe Disease Causes - Pompe Disease News

WebSep 16, 2024 · Pompe disease (PD), which is also referred to as acid maltase deficiency or glycogen storage disease type II, is a metabolic disorder triggered by biallelic gene … WebOct 15, 2015 · Pompe disease is a result of mutations in the GAA gene, which is located on the long arm of chromosome 17 (17q25.2-q25.3) [31, 32] and encodes the 105-kDa GAA enzyme . Mutations in the gene lead to deficiency in the lysosomal enzyme GAA, causing accumulation of lysosomal and non-lysosomal glycogen in multiple tissues [ 34 ]. sharpe 18c-3r regulator repair kit

Pompe Disease (for Parents) - Nemours KidsHealth

WebJul 23, 2014 · Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in … WebPompe disease (glycogen storage disease type II, acid ... chromosome 17q25.2-q25.3 and containing 19 coding exons and 1 non-coding exon [1]. Johannes Cassianus Pompe’s … WebAug 10, 2024 · Pompe disease (type II glycogen storage disease) is an inherited enzyme defect that usually manifests in childhood. The enzymes affected normally catalyze … sharpe 20276 check valve pdf