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Sialic Acid Storage Disease| Name | Sialic Acid Storage Disease |
|---|---|
| Synonyms | Finnish Type Sialuria | Finnish Type Sialurias | French Type Sialuria | Infantile Form Sialuria | Infantile Form Sialurias | Infantile Sialic Acid Storage Disease | Infantile Sialic Acid Storage Disorder | Infantile Sialic Acid Storage Disorder (ISSD) | ISSD | N-ACETYLNEURAMINIC ACID STORAGE DISEASE | NANA STORAGE DISEASE | NSD | Salla Disease | SD | Sialic Acid Storage Disease, Finnish Type | Sialic Acid Storage Disease, Infantile Form | Sialuria | Sialuria, Finnish Type | SIALURIA, FRENCH TYPE | Sialuria, Infantile Form | Sialurias | Sialurias, Finnish Type | Sialurias, Infantile Form |
| Definition | 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. |
| Categories | Genetic disease (inborn) | Metabolic disease | Nervous system disease |
| MeSH® ID | D029461 |
| OMIM® IDs | 269920 | 269921 | 604369 |
| External Links |
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Sialic Acid Storage Disease
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| Free sialic acid storage disease | |
| N-Acetylneuraminic acid storage disease | |
| Sialuria, French type | |
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