Sialic Acid Storage Disease
"Sialic Acid Storage Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D029461
|
| MeSH 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
|
| Concept/Terms |
Infantile Sialic Acid Storage Disease- Infantile Sialic Acid Storage Disease
- French Type Sialuria
- Sialic Acid Storage Disease, Infantile Form
- Sialuria, Infantile Form
- Infantile Form Sialuria
- Infantile Form Sialurias
- Sialurias, Infantile Form
- Infantile Sialic Acid Storage Disorder
- Infantile Sialic Acid Storage Disorder (ISSD)
Salla Disease- Salla Disease
- Sialuria, Finnish Type
- Finnish Type Sialuria
- Finnish Type Sialurias
- Sialurias, Finnish Type
- Sialic Acid Storage Disease, Finnish Type
|
Below are MeSH descriptors whose meaning is more general than "Sialic Acid Storage Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sialic Acid Storage Disease [C10.228.140.163.100.435.810]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sialic Acid Storage Disease [C16.320.565.189.435.810]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sialic Acid Storage Disease [C16.320.565.595.554.810]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sialic Acid Storage Disease [C18.452.132.100.435.810]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sialic Acid Storage Disease [C18.452.648.189.435.810]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sialic Acid Storage Disease [C18.452.648.595.554.810]
Below are MeSH descriptors whose meaning is more specific than "Sialic Acid Storage Disease".
This graph shows the total number of publications written about "Sialic Acid Storage Disease" by people in this website by year, and whether "Sialic Acid Storage Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Sialic Acid Storage Disease" by people in Profiles.
-
Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A. 2005 Oct 15; 138A(3):262-7.