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Sialic Acid Storage Disease MeSH Descriptor Data 2023


MeSH Heading
Sialic Acid Storage Disease
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
Unique ID
D029461
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D029461
Scope Note
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.
Entry Version
SIALIC ACID STORAGE DIS
Entry Term(s)
French Type Sialuria
Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disorder
Infantile Sialic Acid Storage Disorder (ISSD)
Salla Disease
Sialic Acid Storage Disease, Finnish Type
Sialic Acid Storage Disease, Infantile Form
Sialuria
Sialuria, Finnish Type
Sialuria, Infantile Form
Previous Indexing
Carbohydrate Metabolism, Inborn Errors (1986-2001)
Lysosomal Storage Diseases (1991-2001)
Public MeSH Note
2002
History Note
2002
Date Established
2002/01/01
Date of Entry
2001/07/25
Revision Date
2013/07/08
Sialic Acid Storage Disease Preferred
Infantile Sialic Acid Storage Disease Narrower
Salla Disease Narrower
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