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Infantile free sialic acid storage disease

Field	Value
synonyms	severe FSASD
image	File:Autosomal recessive - en.svg
caption	This condition is inherited via an autosomal recessive manner
field	Neurology, endocrinology
symptoms	hepatosplenomegaly; hypotonia; failure to thrive; developmental delays; cognitive deficits; seizures; skeletal abnormalities; dysplasia; metaphyses; clubbed feet; abnormally short thigh bones; nystagmus; ataxia.
duration	lifelong
causes	mutations in the SLC17A5 gene
diagnosis	clinical evaluation and genetic testing
frequency

Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials.

ISSD is the most severe form of the sialic acid storage diseases.

History

The mild form of the disease, Salla disease (also referred to as Finnish-type sialuria, OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern Finland. Salla refers to the area where the affected family resided.

Diagnosis

A diagnosis can be made by measuring cultured tissue samples for increased levels of free sialic acid. Prenatal testing is also available for known carriers of this disorder

References

"OMIM Entry - # 269920 - INFANTILE SIALIC ACID STORAGE DISEASE; ISSD".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

rare-diseases autosomal-recessive-disorders

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