LP32687-3
8-Dehydrocholesterol
Active
Description
8-Dehydrocholesterol (8-DHC) elevated concentration is one of the diagnostic biochemical hallmarks of classical Smith-Lemli-Opitz syndrome (SLOS) . Plasma 8-DHC could be only marginally elevated. ( PMID: 16435228) Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis (caused by a deficit of 3beta-hydroxysterol-Delta7 reductase). Affected children often have malformations and mental retardation. Autistic behaviors also are evident. In children, the baseline cholesterol, 8-DHC levels, and cholesterol levels following supplementation does not correlate with the presence or severity of autistic symptoms. PMID: 16761297 Accumulation of 8-dehydrocholesterol in Amniotic fluid is diagnostic for SLOS. PMID: 16231320 Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, 8-Dehydrocholesterol
Basic Part Properties
- Part Display Name
- 8-Dehydrocholesterol
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-10-23
- Construct for LOINC Short Name
- 8-DHC
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 8-脱氢胆固醇 |
| et-EE | Estonian (Estonia) | 8-dehüdrokolesterool |
| es-ES | Spanish (Spain) | 8-Dehidrocolesterol |
| it-IT | Italian (Italy) | 8-Deidrocolesterolo |
| tr-TR | Turkish (Turkey) | 8-Dehidrokolesterol |
| ru-RU | Russian (Russian Federation) | 8-Дегидрохолестерол |
| nl-NL | Dutch (Netherlands) | 8-dehydrocholesterol |
| fr-BE | French (Belgium) | 8-Dehydrocholestérol |
| fr-CA | French (Canada) | 8-déhydrocholestérol |
| pl-PL | Polish (Poland) | 8-dehydrocholesterol |
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