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A molecular genetics view on Mucopolysaccharidosis Type II.

Mutation research. Reviews in mutation research - 1 Jan 2000

Verma Shalja, Pantoom Supansa, Petters Janine, Pandey Anand Kumar, Hermann Andreas, Lukas Jan

Abstract excerpt

Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene. The mutations cause a loss of enzymatic performance and result in the accumulation of glycosaminoglycans...

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Identifiers

PMID: 34893157
DOI: 10.1016/j.mrrev.2021.108392

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