Mucopolysaccharidosis type VII Sly syndrome

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare genetic disorder characterized by the deficiency of a specific enzyme known as beta-glucuronidase. This enzyme deficiency leads to the accumulation of certain complex carbohydrates, known as glycosaminoglycans (GAGs), within the cells of the body. The accumulation of GAGs interferes with the normal functioning of cells, leading to a variety of symptoms that can affect multiple organ systems.

Symptoms

The symptoms of MPS VII can vary widely in severity and onset. Some individuals may show symptoms at birth, while others may not become apparent until later in childhood or even adulthood. Common symptoms include developmental delay, intellectual disability, coarse facial features, hepatosplenomegaly (enlargement of the liver and spleen), and skeletal abnormalities such as dysostosis multiplex. Some individuals may also experience hydrocephalus (accumulation of fluid in the brain), hearing loss, and heart disease.

Causes

MPS VII is caused by mutations in the GUSB gene, which provides instructions for producing the enzyme beta-glucuronidase. This enzyme is involved in the breakdown of GAGs within cells. When the enzyme is deficient or absent, GAGs accumulate in the cells, leading to the symptoms of MPS VII.

Diagnosis

Diagnosis of MPS VII is based on clinical examination, patient history, and laboratory testing. Laboratory tests typically involve measuring the activity of the beta-glucuronidase enzyme in the blood or skin cells. Genetic testing can also be used to identify mutations in the GUSB gene.

Treatment

There is currently no cure for MPS VII. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, surgery to manage skeletal abnormalities, and medications to manage heart disease and other symptoms. Enzyme replacement therapy, which involves providing the missing enzyme to the body, is a promising treatment approach currently under investigation.

See also

• Mucopolysaccharidosis
• Lysosomal storage disease
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Mucopolysaccharidosis type VII Sly syndrome

Mucopolysaccharidosis type VII Sly syndrome is a rare disease.

Mucopolysaccharidosis type VII Sly syndrome Resources
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