Description
Alglucosidase alfa (Lumizyme®) and avalglucosidase alfa-ngpt (Nexviazyme
TM
) are enzyme replacements used for specific indications as a treatment of Pompe disease.
Pompe disease (glycogen storage disease type II, GSDII, glycogenosis type II, acid maltase deficiency) is an inherited disorder of glycogen metabolism caused by the absence or marked deficiency of the lysosomal enzyme GAA.
In the late onset forms infantile-onset form, Pompe disease results in intralysosomal accumulation of glycogen in various tissues, particularly cardiac and skeletal muscles, and hepatic tissues, leading to the development of cardiomyopathy, progressive muscle weakness, and impairment of respiratory function.
In the juvenile and adult-onset forms, intralysosomal accumulation of glycogen is limited primarily to skeletal muscle, resulting in progressive muscle weakness.
