MUCOPOLYSACCHARIDOSIS VIS Meaning and
Definition
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Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder that falls under the broader category of mucopolysaccharidoses (MPS). MPS VI is characterized by the deficiency or absence of the enzyme arylsulfatase B (ASB), which is responsible for breaking down substances called glycosaminoglycans (GAGs). Without sufficient amounts of ASB, GAGs accumulate in various tissues and organs throughout the body.
The buildup of GAGs in MPS VI affects multiple body systems, leading to a wide range of signs and symptoms. These may include skeletal abnormalities such as short stature, joint stiffness, and skeletal dysplasia, which can cause impaired mobility and deformities. Other symptoms may include coarsened facial features, thickening of the skin, hernias, enlarged liver and spleen, hearing loss, impaired respiratory function, and cardiac complications.
MPS VI is an inherited condition caused by mutations in the ARSB gene, which is responsible for producing the arylsulfatase B enzyme. The disorder is inherited in an autosomal recessive manner, meaning an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
The diagnosis of MPS VI involves clinical evaluation, enzyme activity testing, and genetic testing. While there is currently no cure for MPS VI, treatment options aim to manage symptoms and improve quality of life. These may include enzyme replacement therapy (ERT), which can slow disease progression, as well as supportive therapies such as physical therapy, surgical interventions, and medications to address specific symptoms and complications. Early diagnosis and intervention are crucial in managing the condition and optimizing outcomes for individuals with MPS VI.
Common Misspellings for MUCOPOLYSACCHARIDOSIS VIS
- mucoppolysaccharidosis iis
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Etymology of MUCOPOLYSACCHARIDOSIS VIS
The etymology of the word "Mucopolysaccharidosis VIs" can be broken down as follows:1. Mucopolysaccharidosis: This word can be further divided into:
- Mucopolysaccharide: "Mucopolysaccharide" combines the terms "muco-" (meaning mucus) and "polysaccharide" (meaning a complex carbohydrate composed of many monosaccharide units). It refers to a group of inherited metabolic disorders characterized by the body's inability to break down certain complex carbohydrates or sugars known as glycosaminoglycans (formerly called mucopolysaccharides).
- -osis: The suffix "-osis" in medical terminology refers to a pathological or abnormal condition. Therefore, "mucopolysaccharidosis" indicates the abnormal buildup or accumulation of mucopolysaccharides in the body.
Similar spelling word for MUCOPOLYSACCHARIDOSIS VIS
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