Sly syndrome

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Sly syndrome
Other namesβ-glucuronidase deficiency, β-glucuronidase deficiency mucopolysaccharidosis,
Sly syndrome has an autosomal recessive pattern of inheritance.
SpecialtyEndocrinology Edit this on Wikidata

Sly syndrome, also called

β-glucuronidase. This enzyme is responsible for breaking down large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). The inability to break down GAGs leads to a buildup in many tissues and organs of the body. The severity of the disease can vary widely.[1]

Signs and symptoms

The most severe cases of Sly syndrome can result in

dysostosis multiplex, spinal stenosis, and carpal tunnel syndrome.[1]

While some individuals have developmental delay, others may have normal intelligence.[1] However, the accumulation of GAGs in the brain usually leads to the slowing of development from ages 1–3, and then a loss of previously learned skills until death.[2]

Genetics

The defective gene responsible for Sly syndrome is located on chromosome 7.[3]

Diagnosis

Most people with Sly disease will have elevated levels of GAGs seen in the urine. A confirmatory test is necessary for diagnosis. Skin cells and red blood cells of affected people will have low levels of β-glucuronidase activity. Sly syndrome can also be diagnosed through prenatal testing.[2]

Treatment

Hematopoietic stem cell transplant (HSCT) has been used to treat other types of MPS diseases, but this is not yet available for MPS-VII. Animal experiments suggest that HSCT may be an effective treatment for MPS-VII in humans.[2]

Prognosis

The life expectancy of individuals with MPS VII varies depending on the symptoms. Some individuals are stillborn, while some may survive into adulthood.[1]

Epidemiology

MPS-VII is one of the rarest forms of MPS. It occurs in less than 1 in 250,000 births. As a family, MPS diseases occur in 1 in 25,000 births, and the larger family of lysosomal storage diseases occur in 1 out of 7,000 to 8,000 births.[2]

History

Sly syndrome was originally discovered in 1972.[2] It was named after its discoverer William S. Sly, an American biochemist who has spent nearly his entire academic career at Saint Louis University.[5][6]

References

  1. ^ a b c d "Mucopolysaccharidosis type VII". United States National Library of Medicine. 25 June 2019. Retrieved 2 July 2019.
  2. ^ a b c d e "A Guide to Understanding MPS VII" (PDF). National MPS Society. Retrieved 2 July 2019.
  3. PMID 3376995
    .
  4. PMID 30848434
    .
  5. ^ "slu.edu". Archived from the original on 2007-09-11. Retrieved 2007-12-31.
  6. PMID 4265197
    .
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