Specialty endocrinology ICD-9-CM 277.5 DiseasesDB 8389 | ICD-10 E76.2 OMIM 253220 eMedicine ped/858 | |
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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.
Contents
It was named after its discoverer William S. Sly, an American Biochemist 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.
Symptoms
The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I). The symptoms include:
In addition recurrent pulmonary infections occur. Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system. Inborn mucopolysaccharide metabolic disorders due to β-glucuronidase deficiency with granular inclusions in granulocytes occurs in the biochemical and metabolic systems. Growth and motor skills are affected, and mental retardation also occurs.
Prevalence
MPS type VII occurs in less than 1 in 250,000 births.
Other names
Mucopolysaccharidosis Type VII is also known as β-glucuronidase deficiency, β-glucuronidase deficiency mucopolysaccharidosis, GUSB deficiency, mucopolysaccharide storage disease VII, MCA, and MR.