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Sly syndrome : ウィキペディア英語版 | Sly syndrome
Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known as mucopolysaccharidoses, which are lysosomal storage diseases. In Sly syndrome, the deficiency in β-glucuronidase leads to the accumulation of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body. It was named after its discoverer William S. Sly (1932-), an American Biochemist, in 1969 who has spent nearly his entire academic career at Saint Louis University. ==Genetics==
The defective gene responsible for Sly syndrome is located on chromosome 7.
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