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 |
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
|
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".
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Below are the most recent publications written about "Sialic Acid Storage Disease" by people in Profiles.