Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

17 entry terms
  • Sialuria
  • Sialurias
  • 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, Finnish Type
  • Sialuria, Infantile Form
  • Finnish Type Sialuria
  • Finnish Type Sialurias
  • Infantile Form Sialuria
  • Infantile Form Sialurias
  • Sialurias, Finnish Type
  • Sialurias, Infantile Form

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2002

MeSH Record

Previous Indexing

  • Carbohydrate Metabolism, Inborn Errors (1986-2001)
  • Lysosomal Storage Diseases (1991-2001)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.810w
  2. C16w.320w.565w.189.435.810w
  3. C16w.320w.565w.595w.554.810w
  4. C18.452w.132.100.435.810w
  5. C18.452w.648w.189.435.810w
  6. C18.452w.648w.595w.554.810w

AMA Style

References

  1. National Library of Medicine. Sialic Acid Storage Disease. Medical Subject Headings (MeSH). 2026. Unique ID D029461. http://id.nlm.nih.gov/mesh/2026/D029461
  2. Sialic Acid Storage Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Sialuria
  3. Sialic Acid Storage Disease. In: Wikidata. https://www.wikidata.org/wiki/Q7506696