8-Dehydrocholesterol

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8-Dehydrocholesterol
2D structure for 8-Dehydrocholesterol
Chemical Name	(3S,10S,13R,14R,17R)-10,13-dimethyl-17-[(2R)-6-methylheptan-2-yl]-2,3,4,7,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula	C₂₇H₄₄O
CAS Number	70741-38-7
Chemical Information	HMDB02027
Biochemical Taxonomy	Steroids and Steroid Derivatives
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Cerebrospinal Fluid (CSF)
Tissue Location	Not Available
Normal Biofluid Concentrations	Blood: 0.65 (0.0-1.3) uM
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS)
Other (Monogenic Disorders)	Not Available
Abnormal Biofluid Concentrations	Blood (Smith-Lemli-Opitz syndrome (SLOS)): 312.0 +/- 52.0 uM Cerebrospinal Fluid (CSF) (Smith-Lemli-Opitz syndrome): 0.3 +/- 0.1 (0.2 - 0.5) uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
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)