MUCOPOLYSACCHARIDOSIS III Meaning and
Definition
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Mucopolysaccharidosis III, also known as MPS III or Sanfilippo syndrome, is a rare genetic disorder that belongs to a group of disorders called mucopolysaccharidoses. It is an autosomal recessive disorder, meaning that both copies of the gene responsible for this condition must be mutated in order for individuals to be affected.
MPS III is characterized by the body's inability to properly break down large sugar molecules known as glycosaminoglycans (GAGs). Specifically, the enzyme responsible for breaking down heparan sulfate is missing or not functioning correctly. As a result, heparan sulfate builds up in various tissues and organs throughout the body, leading to the progressive deterioration and dysfunction of multiple bodily systems.
Symptoms of MPS III typically appear in early childhood and can vary greatly among affected individuals. Common signs include developmental delay, intellectual disability, hyperactivity, behavioral problems, seizures, sleep disturbances, and hearing loss. Physical features, such as coarse facial features, enlarged liver and spleen, and joint stiffness, may also be present.
MPS III is classified into four different subtypes (A, B, C, and D), each caused by a specific gene mutation. The severity and rate of progression vary between subtypes, with some individuals experiencing more severe symptoms at an earlier age.
Unfortunately, there is currently no cure for MPS III. Treatment typically focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach, including physical therapy, speech therapy, occupational therapy, and educational support. Ongoing research is being conducted to develop potential therapies and explore gene therapy options for this debilitating condition.
Common Misspellings for MUCOPOLYSACCHARIDOSIS III
- nucopolysaccharidosis iii
- kucopolysaccharidosis iii
- jucopolysaccharidosis iii
- mycopolysaccharidosis iii
- mhcopolysaccharidosis iii
- mjcopolysaccharidosis iii
- micopolysaccharidosis iii
- m8copolysaccharidosis iii
- m7copolysaccharidosis iii
- muxopolysaccharidosis iii
- muvopolysaccharidosis iii
- mufopolysaccharidosis iii
- mudopolysaccharidosis iii
- mucipolysaccharidosis iii
- muckpolysaccharidosis iii
- muclpolysaccharidosis iii
- mucppolysaccharidosis iii
- muc0polysaccharidosis iii
- muc9polysaccharidosis iii
- mucooolysaccharidosis iii
Etymology of MUCOPOLYSACCHARIDOSIS III
The word "Mucopolysaccharidosis III" is a scientific term used in medicine to describe a group of genetic disorders characterized by the accumulation of complex sugar molecules (mucopolysaccharides) in various tissues and organs of the body.
The etymology of the word "mucopolysaccharidosis" can be broken down as follows:
- "Mucopolysaccharide" is a combination of the Latin word "mucus", which refers to a slimy substance secreted by certain tissues, and "polysaccharide", which is a complex carbohydrate made up of several sugar molecules.
- "Osis" is a suffix derived from Greek, commonly used in medical terminology to indicate a pathological condition or disease.
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