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KMID : 1146120170030010001
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Journal of Mucopolysaccharidosis and Rare Diseases
2017 Volume.3 No. 1 p.1 ~ p.8
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Mucopolysaccharidosis Type III: Overview and Future Therapeutic Approaches
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Kwak Min-Jung
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Abstract
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Mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome is a rare autosomal recessive lysosomal storage disorder. It is caused by a deficiency of one of four enzymes involved in the degradation of the glycosaminoglycan (GAG) heparan sulfate. The resultant cellular accumulation of heparan sulfate causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme: MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system (CNS). Main purpose of the treatment for MPS III is to prevent neurologic deterioration. However, conventional enzyme replacement therapy has a limitation due to inability to cross the blood-brain barrier. Several experimental treatment options for MPS III are being developed.
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KEYWORD
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Mucopolysaccharidosis type III, Sanfilippo syndrome, Treatment
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