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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

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Language Variants

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
Synonyms: 8DHC