MPS VII is a rare genetic disease that is lifelong and progressive
Mucopolysaccharidosis VII, (also called MPS VII, MPS 7, and Sly Syndrome) is an inherited condition caused by two mutations in the gene. These mutations can cause a shortage of a certain enzyme called ß-glucuronidase (also called GUS). This enzyme is normally present in cells of tissue and organs throughout the body and helps in maintaining healthy cell function.
How MPS VII is inherited
MPS VII is inherited in a pattern that’s called autosomal recessive. That means that if both parents are carriers of a mutated gene called GUSB, each child has a 25% (1 in 4) chance of inheriting the condition.
Each of these children has a 50% chance (2 in 4) of becoming a carrier.
It is estimated that 1 in 300,000 to 1 in 2,000,000 people have MPS VII.
• ~1 in 250,000 newborns are born with this disease
• It is important to remember that many MPS VII patients may remain undiagnosed
What Causes MPS VII?
MPS VII is caused by a deficiency of an enzyme called ß-glucuronidase (also called GUS)
Glycosaminoglycans (also called GAGs) are complex molecules contained within a certain part of the cell called lysosomes.
GAGs accumulate in cells throughout the body, affecting many organs and systems, including
• bones • tissues • organs
• Specific enzymes are needed to fully degrade GAG so it can be flushed away
• A deficiency in any of the essential enzymes results in partially degraded GAG that accumulates in lysosomes of cells—this condition is called MPS, and there are 7 main types of MPS