Salla disease

Medical condition

Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease was first reported as a lysosomal storage disorder in a family from northern Finland. Salla refers to the area where the affected family resided. It was first described in 1979, after Salla, a municipality in Finnish Lapland and is one of 40 Finnish heritage diseases. The term Salla disease is now used in the literature not only for FSASD cases with the Finnish founder variant in SLC17A5, but also for any mild FSASD cases, independent of the mutation or region of origin.

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