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Table 2.3 Enzyme replacement therapy for lysosomal storage disease: storage material accumulated, deficient enzyme and approved enzymes for treatment
Disorder
Deficient enzyme
Storage material
Approved enzyme for ERT
Genetic inheritance
Gaucher disease
β-glucocerebrosidase
Glucocerebroside
Alglucerase (Ceredase®)
Autosomal
recessive
Imiglucerase,
(Cerezyme®)
Velaglucerase alfa
(VPRIV®)
Taliglucerase alfa
(Elelyso®)
Fabry’s disease
α-galactosidase A
Globotriaosylceramide
Agalsidase alfa
(Replagal®)
X-linked recessive
Agalsidase beta
(Fabrazyme®)
Pompe disease
α-glucosidase
Glycogen
Alglucosidase alfa
(Myozyme®,
Lumizyme®)
Autosomal
recessive
Mucopolysaccariodoses I (MPS I)
α-L-iduronidase
Heparan sulphate, Dermatan
sulphate
Laronidase
(Aldurazyme®)
Autosomal
recessive
Mucopolysaccariodoses II (MPS II) Iduronate-2-sulphatase
Heparan sulphate, Dermatan
sulphate
Idursulphase (Elaprase®)
X-linked recessive
Mucopolysaccariodoses VI (MPS
VI)
Arylsulphatase B (N-acetyl
Galactosamine 4-sulphatase)
Dermatan sulphate, Chondroitin
sulphate
Galsulphase
(Naglazyme®)
Autosomal
recessive
2 Therapeutic Enzymes