4363 8-Dehydrocholesterol 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. 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. Accumulation of 8-dehydrocholesterol in Amniotic fluid is diagnostic for SLOS. (A3399, A3400, A3401). 70741-38-7 129846 C27H44O White powder. No indication of carcinogenicity to humans (not listed by IARC). This is an endogenously produced metabolite found in the human body. It is used in metabolic reactions, catabolic reactions or waste generation. 2014-08-29T06:18:25Z 2026-04-06T13:28:12Z true [H][C@@]1(CC[C@@]2([H])C3=C(CC[C@]12C)[C@@]1(C)CC[C@H](O)CC1=CC3)[C@H](C)CCCC(C)C C27H44O InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21,23-24,28H,6-8,10-17H2,1-5H3/t19-,21+,23-,24+,26+,27-/m1/s1 VUKORTMHZDZZFR-BXAZICILSA-N 384.6377 384.33921603 Endogenous Solid HMDB02027 114943 CHEM003269 NS00126132 20.23 121.19989999999997 50.1424205903791 5 1 1 18.27040487190894 -1.368324909027029 0 4 6.91 -5.62 9.14e-04 g/l