LP111174-1
Lysosomal storage disorders
Active
Description
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
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Source: Wikipedia, Wikipedia
Basic Part Properties
- Part Display Name
- Lysosomal storage disorders
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-11-22
- Construct for LOINC Short Name
- LSD
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte |
| fr-BE | French (Belgium) | Lysosomes.Maladie stockage. |
| zh-CN | Chinese (China) | 溶酶体贮积症 Synonyms: 溶酶体累积病; |
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