| Descriptor English: | Sialic Acid Storage Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Almacenamiento de Ácido Siálico
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| Descriptor Portuguese: | Doença do Armazenamento de Ácido Siálico | ||||||
| Descriptor French: | Maladie de surcharge en acide sialique | ||||||
| Entry term(s): |
Finnish Type Sialuria Finnish Type Sialurias French Type Sialuria Infantile Form Sialuria Infantile Form Sialurias 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 Sialuria, Finnish Type Sialuria, Infantile Form Sialurias Sialurias, Finnish Type Sialurias, Infantile Form |
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| Tree 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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D029461 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Carbohydrate Metabolism, Inborn Errors (1986-2001) Lysosomal Storage Diseases (1991-2001) |
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| Public MeSH Note: | 2002 |
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| History Note: | 2002 |
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| Entry Version: | SIALIC ACID STORAGE DIS |
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| DeCS ID: | 36010 | ||||||
| Unique ID: | D029461 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2002/01/01 | ||||||
| Date of Entry: | 2001/07/25 | ||||||
| Revision Date: | 2013/07/08 |
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Sialic Acid Storage Disease
- Preferred
Infantile Sialic Acid Storage Disease
- Narrower
Salla Disease
- Narrower
| Concept UI |
M0384694 |
| Scope note | 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. |
| Preferred term | Sialic Acid Storage Disease |
| Entry term(s) |
Sialuria Sialurias |
| Concept UI |
M0384695 |
| Preferred term | Infantile Sialic Acid Storage Disease |
| Entry term(s) |
French Type Sialuria Infantile Form Sialuria Infantile Form Sialurias Infantile Sialic Acid Storage Disorder Infantile Sialic Acid Storage Disorder (ISSD) Sialic Acid Storage Disease, Infantile Form Sialuria, Infantile Form Sialurias, Infantile Form |
| Concept UI |
M0384696 |
| Preferred term | Salla Disease |
| Entry term(s) |
Finnish Type Sialuria Finnish Type Sialurias Sialic Acid Storage Disease, Finnish Type Sialuria, Finnish Type Sialurias, Finnish Type |
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