DESCRIPTION:
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. Generated by gene2mesh v. 1.1.1
LABEL:
Sialic Acid Storage Disease
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
| Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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