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Mucopolysaccharidoses
1
characteristics
of
Mucopolysaccharid
- the children slowly develop
- thick, facial features
- prominent dark eyebrows
- progressive stiffness
- Mental retardation
DEFINE
Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) is a general term for many different related inherited disorders that are caused by the accumulation of mucopolysaccharides in body tissues. This accumulation interferes with the individual's development.
Diagnosis
While a diagnosis for each type of MPS can be made based on the physical signs, several of the conditions have similar features. Therefore, enzyme analysis is used to determine the specific MPS disorder. Enzyme analysis often cannot accurately determine if an individual is a carrier for an MPS disorder, because the enzyme levels in individuals who are not carriers overlaps the enzyme levels seen in those individuals who are carrier for MPS. With many of the MPS conditions, several mutations have been found in each gene involved that can cause symptoms of each condition. If the specific mutation is known in a family, DNA analysis may be possible
Mucopolysaccharidoses
Teleia Mitchell
Treatment
There is no cure for MPS, although several types of experimental therapies are being investigated. Typically, treatment involves trying to relieve the symptoms and improve quality of life. Another experimental treatment for MPS I involves extended treatment with recombinant human alpha-L-iduronidase. Some individuals treated with this technique show an improvement in some symptoms. Additionally, there is ongoing research involving gene replacement therapy (the insertion of normal copies of a gene into the cells of patients whose gene copies are defective), although this was as of 2004 still highly experimental.