Disease or Syndrome
sialuria
Subclass of:
Lysosomal Storage Diseases, Nervous System
Definitions related to sialuria:
  • (sialic acid storage disease) A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • (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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
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