What is MPS 7?
Mucopolysaccharidosis type 7 (MPS 7) is an inherited metabolic disorder. Like other types of MPS disease, MPS 7 is caused by an enzyme deficiency in the processing of glycosaminoglycans (GAGs). In MPS 7, patients lack the enzyme, beta-glucuronidase, which is required for the degradation of the GAGs dermatan sulfate (DS), heparan sulfate (HS), and chondroitin 6 sulfate (CS).
MPS 7 is also called Sly Syndrome, as it was first described by Dr. William Sly in 1973. It is an extremely rare form of MPS.
Patients with MPS 7 may experience joint stiffness, short stature, an enlarged spleen and liver and heart / lung complications. MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia. Hearing loss, cataracts and clouding of the corneas are also symptoms of patients with MPS 7. In more severe cases, there may be developmental delay. The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema). This is a very severe neonatal condition in which the child retains an enormous amount of fluid throughout the body. More than half of infants with hydrops fetalis do not survive beyond early infancy. Some adults with MPS 7 can have a less severe physical or skeletal disease.
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