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Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
For more specific information about the various forms of
mucopolysaccharidosis, please click on the links below:
Mucopolysaccharidosis, Type I
Mucopolysaccharidosis, Type II
Mucopolysaccharidosis, Type III
Mucopolysaccharidosis, Type IV
Mucopolysaccharidosis, Type VI
Mucopolysaccharidosis, Type VII
Mucopolysaccharidosis, Type IX
Source: GARD Last updated on 05-01-20
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