Last update 01 Nov 2024

Mucopolysaccharidosis II

Basic Info

Synonyms
Deficiency of iduronate-2-sulfatase, Deficiency of iduronate-2-sulphatase, Deficiency, I2S
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Introduction
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.

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