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| Sialic Acid Storage Disease Infantile Sialic Acid Storage Disease | Salla Disease | Sialic Acid Storage Disease, Finnish Type | Sialic Acid Storage Disease, Infantile Form | Sialuria | Sialuria, Finnish Type | Sialuria, Infantile Form | Finnish Type Sialuria | Sialurias Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided. |