Salla disease

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Definition

noun

A type of lysosomal storage disease that is often caused by a defective transport of free sialic acid across lysosomal membranes resulting in the accumulation of sialic acid in the lysosomes of the cells, and thereby leads to symptoms such as mental retardation, coarse facies, slow speech, spasticity, ataxia, and clumsiness


Supplement

Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is the Salla disease.

Salla disease is associated with pathological mutations involving the SLC17A5 gene on chromosome 6q14-15. In humans, this gene codes for sialin. Sialin is a lysosomal transport membrane protein. It transports N-acetylneuraminic acid or sialic acid from the lysosomes into the cytosol. Mutation in the SLC17A5 gene affects the synthesis of functional sialin. Without the proper transport of sialic acid, the outcome is a buildup of sialic acid within the lysosomes. The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.

Some of the symptoms of Salla disease are mental retardation, coarse facies, slow speech, spasticity, ataxia, and clumsiness.


Abbreviation/Acronym:

  • SD

Synonym(s):

  • sialic acid storage disease
  • Finnish type sialuria

See also: