Definitions for sialic acid storage disease

This page provides all possible meanings and translations of the word sialic acid storage disease

U.S. National Library of Medicine

  1. Sialic Acid Storage Disease

    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.


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