Thelansis

 Pompe disease, also known as glycogen storage disease type II (GSD2), is a metabolic disorder caused by mutations in the GAA gene on chromosome 17q25.3. These mutations lead to the synthesis of an insufficient or absent form of the lysosomal enzyme alpha-glucosidase. This results in the accumulation of glycogen within lysosomes in muscular tissue, leading to impairments in striated muscular cells. GSD2 can present as either an early-onset (infantile, classic) or late-onset (non-classic) form. Early-onset GSD2 is severe and often fatal without prompt treatment, with respiratory insufficiency and left ventricular outflow obstruction as common causes of mortality. Late-onset GSD2 also results in respiratory insufficiency but at a later age. Enzyme replacement therapy (ERT) is currently the most effective treatment for GSD2. By introducing an analogous enzyme, lysosomal glycogen accumulation in cardiac and skeletal muscle is reduced. The timing of diagnosis is a critical factor in det...

  Pompe disease is an autosomal recessive disorder caused by a deficiency of the enzyme alpha-glucosidase (GAA), resulting in the lysosomal accumulation of glycogen in multiple organs with prominent involvement in the heart and skeletal muscle. A deficiency causes it in the lysosomal enzyme acid alpha-glucosidase. The clinical presentation is heterogeneous, mainly due to the amount of residual GAA enzyme activity associated with different mutations in the GAA gene. Thus, Pompe disease varies concerning the age at onset, disease progression, and extent of organ involvement. It is an uncommon cause of the floppy baby syndrome and is thus often overlooked in early differential diagnoses of infants. The estimated incidence of infantile forms of Pompe disease ranges between 1.5 to 2.7 cases per every 120,000 births, and the late-onset form ranges between 1 to 2 cases per 60,000 births. Thelansis’s “Pompe Disease Market Outlook, Epidemiology, Competitive Landscape , ...