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.


Leave a message about 'sialic acid storage disease'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.