Table 2.
Current status of approved enzyme replacement therapies for rare diseases
| Disease | Deficient enzyme | Product* | Available in Korea |
|---|---|---|---|
| Gaucher disease | β Glucocerebrosidase | Imiglucerase (Cerezyme) | o |
| Velaglucerase alfa (VPRIV) | o | ||
| Taliglucerase alfa (Elelyso) | o | ||
| Imiglucerase (Abcertin) | o | ||
| Fabry disease | α-Galactosidase A | Agalsidasae beta (Fabrazyme) | o |
| Agalsidase alfa (Replagal) | o | ||
| Agalsidase beta (Fabagal) | o | ||
| MPS I | α-L-Iduronidase | Laronidase (Aldurazyme) | o |
| MPS II | Iduronate 2-sulfatase | Idursulphase (Elaprase) | o |
| Idursulfase beta (Hunterase) | o | ||
| MPS IVA | N-acetylgalactosamine-6-sulfatase | Elosulphase alpha (Vimizim) | o |
| MPS VI | Arylsulfatase B | Galsulphase (Naglazyme) | o |
| MPS VII | β-Glucuronidase | Vestronidase alfa (Mepsevii) | x |
| Pompe disease | Lysosomal α-glucosidase | Alglucosidase alfa (Myozyme/Lumizyme) | o |
| Avalglucosidase alfa (Nexviazyme) | o | ||
| CESD | Lysosomal acid lipase | Sebelipase alfa (Kanuma) | o |
| Alpha-mannosidosis | Lysosomal α-mannosidase | Velmanase alfa (Lamzede) | x |
| CLN2 | Tripeptidyl peptidase 1 | Cerliponase alfa (Brineura) | x |
| Niemann-Pick disease type A/B | Acid sphingomyelinase | Olipudase alfa (Xenpozyme) | x |
| Hypophosphatasia | Tissue-nonspecific alkaline phosphatase | Asfotase alfa (Strensiq) | o |
| Phenylketonuria | Phenylalanine hydroxylase | Pegvaliase-pqpz (Palynziq) | x |
MPS, mucopolysaccharidosis; CESD, cholesteryl ester storage disease; CLN2, ceroid lipofuscinosis type 2.
*
Brand name in parenthesis.