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Salla disease

Salla disease (or Finnish type sialuria) is a syndrome leading to early physical impairment and mental retardation. This is due to a mutation in chromosome 6 (a recessive allele in the gene SLC17A5 the locus of which is 6q14-15). This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.

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First described by P Aula et al. in 1979, Salla disease is named after Salla, a municipality in Finnish Lapland. It is one of nearly 40 diseases that make up the Finnish disease heritage. The majority of 100 Salla disease patients in Finland live in Salla or neighboring municipalities; there are maybe 30-40 patients living abroad, majority of them (one source says 27) in Sweden.

Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia and cognitive impairment. The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.

References

Aula P, Autio S, Raivio KO, Rapola J, Thoden CJ, Koskela SL, Yamashina I (1979). ""Salla disease": a new lysosomal storage disorder". Arch Neurol 36 (2): 88-94. PMID 420628.
Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Simila S (1988). "Neuropathology of Salla disease". Acta Neuropathol (Berl) 75 (5): 481-90. PMID 3287834.
Strehle EM (2003). "Sialic acid storage disease and related disorders". Genet Test 7 (2): 113-21. PMID 12885332.
Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004). "Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity". Mol Genet Metab 82 (2): 137-43. PMID 15172001.