SIALIDOSES Meaning and
Definition
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Sialidoses refer to a group of rare genetic disorders characterized by the impaired breakdown and accumulation of complex carbohydrates known as mucopolysaccharides, specifically sialic acid. These conditions are a part of a broader category of diseases called lysosomal storage disorders.
Sialidoses are inherited in an autosomal recessive manner, meaning that both copies of the affected gene must be mutated for the disease to manifest. Mutations in the gene N-acetyl-alpha-neuraminidase (NEU1) are primarily responsible for causing sialidoses. NEU1 produces an enzyme called neuraminidase, which is involved in breaking down and recycling sialic acid.
In individuals with sialidoses, the lack of functional NEU1 leads to the accumulation of sialic acid in various tissues and organs throughout the body. This abnormal buildup affects the normal functioning of cells and disrupts the activities of various systems, such as the nervous system, skeletal system, and connective tissues.
The signs and symptoms of sialidoses can vary widely depending on the specific type and severity of the disorder. Common features may include intellectual disability, developmental delays, coarse facial features, skeletal abnormalities, enlarged liver and spleen, heart problems, and impaired vision or hearing.
Since sialidoses are genetic disorders, there is currently no cure. Treatment options are mainly supportive and focus on managing the symptoms and complications associated with the disorder. These may include physical therapy, speech therapy, medications to manage pain or other symptoms, and surgeries when necessary.
In conclusion, sialidoses are a collection of rare lysosomal storage disorders caused by mutations in the NEU1 gene, resulting in the accumulation of sialic acid and subsequent impairment of various bodily functions.
Common Misspellings for SIALIDOSES
- aialidoses
- zialidoses
- xialidoses
- dialidoses
- eialidoses
- wialidoses
- sualidoses
- sjalidoses
- skalidoses
- soalidoses
- s9alidoses
- s8alidoses
- sizlidoses
- sislidoses
- siwlidoses
- siqlidoses
- siakidoses
- siapidoses
- siaoidoses
- sialudoses
Etymology of SIALIDOSES
The word "sialidoses" is derived from the combination of two components:
1. Sialo-: This prefix is derived from the Greek word "sialon", which means "saliva". In medical terminology, the prefix "sialo-" is used to denote something related to saliva or salivary glands.
2. -dos(e)s: This suffix is derived from the Greek word "dosis", which means "a portion or part". In medical terminology, the suffix "-doses" is used to indicate a group of diseases or disorders that share certain characteristics.
Therefore, the word "sialidoses" refers to a group of disorders or diseases that involve abnormal functioning or development of the salivary glands.
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