Lysosomal diseases mucopolysaccharidosis

Ross, C.J., Bastedo, L., Maier, S.A., Sands, M.S., and Chang, P., Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. Hum. Gene Ther., 11 (15), 2117-2127, 2000. 

Idursulfase (Elaprase) is a drug used to treat mucopolysaccharidosis II or Hunter syndrome. It is a lysosomal storage disease caused by iduronate-2-sulfatase deficiency. Idursulfase is a purified form of iduronate-2-sulfatase produced by recombinant DNA technology in a human cell line. The drug provides clinically important benefits to Hunter syndrome patients. After intravenous infusion Idursulfase is eliminated by peptide hydrolysis with an elimination half-life of 45 minutes. The most common adverse events are hypersensitivity reactions, pyrexia, headache and arthralgia. 

Vogler, C. et al. (1998). Murine mucopolysaccharidosis type VII The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. J. Inherit. Metab. Dis. 21(5), 575-586. 

There are over 40 lysosomal storage disorders (LSDs) characterized by the specific enzyme deficiency and accumulated substrate. Pathologies associated with LSDs are multisystemic and variable including CNS, skeletal, cardiovascular, renal, and ocular system involvement. The aggregate incidence is estimated to approach 1 in 7000 live births (Ellinwood et al., 2004). Inheritance for LSDs is primarily autosomal recessive with the exception of two X-linked diseases (Fabry and mucopolysaccharidosis (MPS) II). Treatment for LSDs relies on providing functional enzyme to the lysosomes of affected cells and has traditionally been confined to bone marrow transplantation, and enzyme replacement therapy (ERT). 

Vogler, C. Sands, M.S. Galvin, N. Levy, B. Thorpe, C. Barker, J. Sly, W.S. Murine Mucopolysaccharidosis Type VII The Impact of Therapies on the Clinical Course and Pathology in a Murine Model of Lysosomal Storage Disease. J. Inherit Metab. Dis., 1998, 21, 575-586. 

---