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Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly Syndrome

key information

source: Ultragenyx Pharmaceutical Inc.

year: N/A

summary/abstract:

MPS VII, also called Sly syndrome, is a rare, life-threatening lysosomal storage disorder, caused by mutations of the GUSB gene, which results in a  deficiency of the β-glucuronidase enzyme. β-glucuronidase plays a key role in the breakdown of glycosaminoglycans (GAGs), previously called mucopolysaccharides. The inability to properly  break down GAGs causes them to build up in the lysosomes.

Signs and symptoms of MPS VII generally become more severe. Hip dysplasia and worsening pulmonary function are two of the progressive symptoms commonly observed in patients with MPS VII. In some cases, people with MPS VII may develop new signs and symptoms, which may also progress. It is important to recognize the signs and symptoms of MPS VII. Early and accurate diagnosis and management may help to slow disease progression.

 

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