Sly syndrome
Sly Syndrome is a rare genetic disorder characterized by a deficiency of the enzyme beta-glucuronidase. This enzyme is required for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Sly Syndrome is also known as Mucopolysaccharidosis type VII (MPS VII) or Beta-glucuronidase deficiency.
Symptoms[edit | edit source]
The symptoms of Sly Syndrome can vary widely among affected individuals. They may include hydrops fetalis, skeletal abnormalities, short stature, coarse facial features, hepatosplenomegaly, cardiovascular abnormalities, and developmental delay.
Causes[edit | edit source]
Sly Syndrome is caused by mutations in the GUSB gene. This gene provides instructions for producing the enzyme beta-glucuronidase. Without this enzyme, GAGs accumulate in the cells, leading to the various symptoms of Sly Syndrome.
Diagnosis[edit | edit source]
Diagnosis of Sly Syndrome is based on a clinical examination, detailed patient history, and specialized tests such as enzyme analysis or genetic testing. Prenatal diagnosis is also possible through amniocentesis or chorionic villus sampling.
Treatment[edit | edit source]
There is currently no cure for Sly Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to correct bone abnormalities, and enzyme replacement therapy.
Prognosis[edit | edit source]
The prognosis for individuals with Sly Syndrome varies depending on the severity of symptoms. Some individuals have a normal lifespan, while others may have life-threatening complications in infancy or early childhood.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD