Sly syndrome, officially known as mucopolysaccharidosis type VII (MPS VII), is a rare genetic disorder characterized by the deficiency of an enzyme called beta-glucuronidase. This enzyme is responsible for breaking down specific molecules called glycosaminoglycans (GAGs) in the body. In individuals with Sly syndrome, the absence or dysfunction of the beta-glucuronidase enzyme leads to the accumulation of GAGs in various tissues and organs, resulting in progressive and widespread damage.
The disorder affects multiple systems in the body, causing a broad range of symptoms and complications. These may include skeletal abnormalities, organ enlargement, heart problems, breathing difficulties, impaired vision and hearing, joint stiffness, developmental delays, intellectual disability, and facial features that may appear coarse. Due to its progressive nature, individuals with Sly syndrome often experience a decline in their overall health and quality of life over time.
Sly syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the defective gene for their child to be affected. Diagnosis typically involves clinical examination, assessment of symptoms, and specialized laboratory tests to measure the enzyme activity or detect genetic mutations. While there is currently no cure for Sly syndrome, treatments focus on symptom management and supportive care, such as physical and occupational therapy, surgeries to alleviate specific complications, and enzyme replacement therapy in some cases. Genetic counseling and prenatal testing are essential for families with a history of the disorder to make informed decisions about family planning.
