INFANTILE FORM SIALURIA Meaning and
Definition
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Infantile form sialuria is a rare genetic disorder characterized by the excessive excretion of a molecule called sialic acid in urine. Sialic acid is an important component of various proteins and lipids involved in cell signaling, immune response, and brain development. The condition is caused by mutations in the gene known as SLC17A5, which encodes a protein necessary for the transportation of sialic acid out of cells.
Individuals with infantile form sialuria typically present with symptoms early in life, usually within the first year. These symptoms may include developmental delay, intellectual disability, impaired muscle coordination (ataxia), and abnormal facial features such as a prominent forehead, pointed chin, and a thin upper lip. Affected individuals may also experience seizures, speech difficulties, and growth retardation.
The excessive excretion of sialic acid in urine is a hallmark of infantile form sialuria and can be confirmed through laboratory testing. Genetic testing can further detect mutations in the SLC17A5 gene.
Currently, there is no specific cure for infantile form sialuria. Management of the condition mainly focuses on addressing the specific symptoms of the affected individual. This may involve physical and occupational therapy to address developmental delays and improve muscle coordination. Speech therapy and special education programs can also be beneficial for those with speech difficulties and intellectual disabilities. Additionally, it is important to monitor and manage any associated health issues that may arise, such as seizures.
Common Misspellings for INFANTILE FORM SIALURIA
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