Mucopolysaccharidosis type VII (MPS VII)

Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome, is a rare genetic metabolic disorder.

Mucopolysaccharides are sugars made in the body that help build tissues such as bones, cartilage, skin and tendons. The body uses enzymes to break down and recycle mucopolysaccharides. In MPS VII, the body does not produce enough beta-glucuronidase, an enzyme that plays a key part in the breakdown of specific mucopolysaccharides. This leads to abnormal storage of certain complex sugars within the cells and tissues, leading to progressive damage in the body.

People with MPS VII may experience joint stiffness, short stature, an enlarged spleen and liver, and heart and lung complications. The disorder can also lead to a progressive skeletal dysplasia, hearing loss, cataracts, clouding of the corneas and in severe cases can cause developmental delay.

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