Sly syndrome
Sly Syndrome
Sly syndrome, also known as Mucopolysaccharidosis type VII (MPS VII), is a rare genetic disorder characterized by the deficiency of a particular enzyme in the body. The condition is named after the American physician, William Sly, who first described the syndrome in 1969.
Pronunciation
The pronunciation of Sly syndrome is: /slaɪ sɪnˈdroʊm/
Etymology
The term "Sly syndrome" is derived from the name of Dr. William Sly, who first identified the condition. The term "syndrome" comes from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
Sly syndrome is characterized by a wide range of symptoms, which can vary greatly in severity. These may include developmental delay, intellectual disability, skeletal abnormalities, and coarse facial features. Many individuals with Sly syndrome also have hepatosplenomegaly, or enlarged liver and spleen.
Causes
Sly syndrome is caused by mutations in the GUSB gene. This gene provides instructions for producing an enzyme called beta-glucuronidase, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GUSB gene lead to a deficiency of beta-glucuronidase, causing GAGs to accumulate in the body's cells and tissues, which leads to the symptoms of Sly syndrome.
Diagnosis
Diagnosis of Sly syndrome is based on a clinical examination, detailed patient history, and specialized confirmatory tests. These tests may include enzyme analysis, genetic testing, and urine tests to check for elevated levels of GAGs.
Treatment
There is currently no cure for Sly syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and various types of surgery to manage the symptoms. Enzyme replacement therapy (ERT) with a synthetic version of beta-glucuronidase is also available.
See also
External links
- Medical encyclopedia article on Sly syndrome
- Wikipedia's article - Sly syndrome
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