Agalsidase beta (Fabrazyme®) and pegunigalsidase alfa-iwxj Elfabrio® are an exogenous source of the lysosomal enzyme α-glucosidase A (a-GalA), catalyzing the hydrosis of glycosphinogolipids, including globotriaosylceramide (GL-3), hence reducing its deposition in capillary endothelium of the kidney, heart, brain and other tissue types. α-glucosidase A deficiency, otherwise known as Fabry Disease, is an X- linked genetic disorder of glycosphingolipid metabolism. Deficiency of a-Gal leads to progressive accumulation of glycoshingolipids, predominantly GL-3, in many body tissues, occurring over a period of years. Clinical manifestations of the disease include renal failure, cardiomyopathy and cerebrovascular accidents.
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 acid alpha-glucosidase (GAA), an enzyme that degrades lysosomal glycogen.
Elosulfase alfa (Vimizim TM ) is a purified human enzyme produced by recombinant DNA for the treatment of Mucopolysaccharidosis type IVA (MPS IVA) or Morquio A syndrome which causes a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). Elosulfase alfa (Vimizim) replaces the missing enzyme GALNS.
Galsulfase (Naglazyme®) is a human enzyme produced by recombinant DNA technology in a Chinese hamster ovary. Galsulfase is an orphan drug used to treat the inherited metabolic disorder mucopolysaccharidosis VI (MPS VI or Maroteaux-Lamy Syndrome). MPS VI is caused by a lack of the enzyme ASB that normally breaks down certain carbohydrates known as glycosaminoglycans. MPS VI causes widespread cumulative organ and tissue damage.
Idursulfase (Elaprase ® ), is a purified form of human iduronate-2-sulfatase used for the treatment of Hunter syndrome (Mucopolysaccharidosis II, MPS II) a rare, genetic disease which can lead to premature death. Hunter syndrome is characterized by glycosaminoglycan accumulation due to deficiency in the enzyme iduronate 2-sulfase, which is needed to adequately break down complex sugars produced in the body. Hunter syndrome usually becomes apparent in children one (1) to three (3) years of age.
Sebelipase alfa (Kanuma®) is a recombinant human lysosomal acid lipase (rhLAL). Lysosomal acid lipase is a lysosomal glycoprotein enzyme that catalyzes the hydrolysis of cholesteryl esters to free cholesterol and fatty acids and the hydrolysis of triglycerides to glycerol and free fatty acids.
Vestronidase alpha-vjbk (Mepsevii TM ) is a recombinant human lysosomal beta glucuronidase enzyme replacement therapy indicated in pediatric and adult individuals for the treatment of Mucopolysaccharidosis VII (MPS VII, Sly syndrome).MPS VII is caused by pathogenic mutations in the GUSB gene. The GUSB gene is responsible for producing an enzyme called beta-glucuronidase which is involved in the breakdown of large molecules called glycosaminoglycans (GAGs).
Laronidase (Aldurazyme®) is a hydrolytic lysosomal glycosaminoglycan (GAG)-specific enzyme used to treat mucopolysaccharidosis I (MPS I), an autosomal recessive disorder which causes a deficiency of alpha-L-iduronidase, an enzyme required to break down glycosaminoglycans.
Olipudase alfa-rpcp (Xenpozyme TM ) is a hydrolytic lysosomal sphingomyelin-specific enzyme indicated for treatment of non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD), a lysosomal storage disease. ASM is necessary to break down the fatty substance shingomyelin in the lysosomes. Buildup of sphingomyelin can occur in major organs such as the liver, lungs, and spleen which, over time, can cause serious health complications.