 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
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| 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
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| Concept/Terms |
Salla Disease- Salla Disease
- Sialuria, Finnish Type
- Finnish Type Sialuria
- Finnish Type Sialurias
- Sialurias, Finnish Type
- Sialic Acid Storage Disease, Finnish Type
Infantile Sialic Acid Storage Disease- Infantile Sialic Acid Storage Disease
- Infantile Sialic Acid Storage Disorder (ISSD)
- Sialuria, Infantile Form
- Infantile Form Sialuria
- Infantile Form Sialurias
- Sialurias, Infantile Form
- Infantile Sialic Acid Storage Disorder
- Sialic Acid Storage Disease, Infantile Form
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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 UAMS Profiles by year, and whether "Sialic Acid Storage Disease" was a major or minor topic of these publications.
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Below are the most recent publications written about "Sialic Acid Storage Disease" by people in Profiles over the past ten years.
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