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Mucopolysaccharidosis type VII Sly syndrome

Mucopolysaccharidosis Type VII or Sly syndrome (named after its discoverer William Sly in 1969) is also sometimes called MPS. The defective gene lies on chromosome 7. MPS is transmitted as an autosomal recessive trait. more...

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It is an extremely rare inherited metabolic disorder characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known as the 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.

The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I). The symptoms include:

  • in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica
  • in the eyes: corneal opacity and iris colobmata
  • in the nose: anteverted nostrils and a depressed nostril bridge
  • in the mouth and oral areas: prominent alveolar processes and cleft palate
  • in the thorax: usually pectus carinatum or exacavatum and oar-shaped ribs; also a protruding abdomen and inguinal or umbilical hernia
  • in the extremities: talipes, an underdeveloped ilium, aseptic necrosis of femoral head, and shortness of tubular bones occurs
  • in the spine: kyphosis or scoliosis and hook-like deformities in thoracic and lumbar vertebrate
  • in the bones: dysotosis multiplex

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.

MPS type VII occurs in only 1:250,000 people.

Mucopolysaccahridosis Type VII is also known as β-glucurondinase deficiency, β-glucurondinase deficiency mucopolysaccahridosis, GUSB deficiency, mucopolysaccahride storage disease VII, MCA, and MR.

Read more at Wikipedia.org


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Gene therapy possible for Sly's syndrome
From Science News, 8/10/91 by Carol Ezzell

Geneticists at Jackson Laboratory in Bar Harbor report using gene therapy to cure a rare, inherited metabolic disorder - known in humans as Sly's syndrome - in newborn and adult mice. The team, led by Edward H. Birkenmeier, has so far spliced normal copies of the gene for the enzyme betaglucuronidase into the bone marrow of hundreds of mice, reversing all signs of the disease.

The mice were born with mucopolysaccharidosis Type VII, a disfiguring and eventually fatal disease caused by mutations in the genes that code for beta-glucuronidase. The mutations prevent production of the enzyme, which is needed to rid cells of complex sugars called mucopolysaccharides. Without betaglucuronidase, toxic levels of the sugars accumulate in compartments called lysosomes, which are responsible for breaking down cellular wastes. The buildup causes stunted growth, as well as deformities of the skeletal and nervous systems.

People with Sly's syndrome usually have cardiac murmurs and mental retardation, and most die before 2 years of age. "Currently, there's no definitive treatment for the disorder," says its discoverer, William S. Sly of St. Louis University School of Medicine. Sly says he and Birkenmeier have been able to produce moderate quantities of beta-glucuronidase through genetic engineering, but have not yet convinced a drug or biotechnology company to develop the engineered enzyme, which has a limited market.

As long as the enzyme treatment remains unavailable, Sly says, "this disorder would be a candidate for human gene therapy." In the recent mouse experiment, the inserted gene produced only 2 to 5 percent of the normal enzyme level, but this was sufficient to cure the disease, Birkenmeier says.

COPYRIGHT 1991 Science Service, Inc.
COPYRIGHT 2004 Gale Group

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