Sialic Acid Storage Disease [nemoc z ukládání kyseliny sialové]
- Terms
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infantilní forma Sallovy nemoci
kyselina sialová - nemoc z ukládání
lysozomální akumulace volné kyseliny sialové
nemoc Salla
sialurie
sialurie finského typu
sialurie u dětí
střádání kyseliny sialové
střádání kyseliny sialové u dětí
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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
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.
- DUI
- D029461 MeSH Browser
- CUI
- M0384694
- Previous indexing
- Carbohydrate Metabolism, Inborn Errors (1986-2001); Lysosomal Storage Diseases (1991-2001)
- History note
- 2002
- Public note
- 2002
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