Mucopolysaccharidosis Type VII

Causes

What gene change causes Mucopolysaccharidosis Type VII?

Mucopolysaccharidosis type VII (MPS VII) is caused by genetic changes in the GUSB gene. Genetic changes in the GUSB gene prevent normal production of an enzyme called β-glucuronidase. This lack of β-glucuronidase causes the buildup of glycosaminoglycans (GAGs) in different parts of the body. This problem with the storage of GAGs is what causes health problems for people with MPS VII. GAGs were originally called mucopolysaccharides, which is where this condition gets its name. There are eleven (11) other types of MPS disorders caused by different genes. Only changes in GUSB cause MPS VII.

References
  • http://omim.org/entry/253220
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What occurs due to a change in the GUSB gene?

Does anything make mucopolysaccharidosis type VII worse?

Are changes in the GUSB gene a cause?

What occurs due to a change in the GUSB gene?

Genetic changes in the GUSB gene prevent normal production of an enzyme called β-glucuronidase. This enzyme's normal role is to break down large sugar molecules called glycosaminoglycans (GAGs) in different parts of the body. When β-glucuronidase isn't working properly or there isn't enough enzyme, GAGs start to build up in the cells. This problem with the storage of GAGs causes health problems for people with mucopolysaccharidosis type VII (MPS VII). The buildup of GAGs in cells increases their size, which is why many types of tissue and organs are enlarged in people who are affected by MPS VII. Researchers believe that too many GAGs may also interfere with the normal functioning of cells and cause cell damage and death.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
Does anything make mucopolysaccharidosis type VII worse?

There are no known environmental, pharmaceutical, or other factors that may make MPS VII condition more severe.

References
  • https://www.orpha.net/data/patho/Pub/en/Mucopolysaccharidoses_En_2013.pd
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://omim.org/entry/253220
Are changes in the GUSB gene a cause?

Genetic changes in the GUSB gene are the cause of mucopolysaccharidosis Type VII.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii

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