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.
Year introduced: 2002
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Subheadings:
Tree Number(s): C10.228.140.163.100.435.810, C16.320.565.189.435.810, C16.320.565.595.554.810, C18.452.132.100.435.810, C18.452.648.189.435.810, C18.452.648.595.554.810
MeSH Unique ID: D029461
Entry Terms:
- Sialuria
- Sialurias
- Infantile Sialic Acid Storage Disease
- Infantile Sialic Acid Storage Disorder
- Infantile Sialic Acid Storage Disorder (ISSD)
- Sialic Acid Storage Disease, Infantile Form
- Sialuria, Infantile Form
- Infantile Form Sialuria
- Infantile Form Sialurias
- Sialurias, Infantile Form
- French Type Sialuria
- Salla Disease
- Sialic Acid Storage Disease, Finnish Type
- Sialuria, Finnish Type
- Finnish Type Sialuria
- Finnish Type Sialurias
- Sialurias, Finnish Type
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