Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.
Cholesta-5,8-dien-3 beta-ol (8-dehydrocholesterol) and cholesta-5,7-dien-3 beta-ol (7-dehydrocholesterol) were isolated from the fecal neutral sterol fraction from homozygotes with Smith-Lemli-Opitz syndrome. The structures of the sterols were conclusively established from their mass spectra and 1H and 13C nuclear magnetic resonance spectra. It is probable that 8-dehydrocholesterol arises from 7-dehydrocholesterol and is not a direct precursor of cholesterol.
Batta
A K
AK
Department of Medicine, University of Medicine and Dentistry-New Jersey Medical School, Newark 07103, USA.
Tint
G S
GS
Shefer
S
S
Abuelo
D
D
Salen
G
G
D000015:Abnormalities, Multiple / Q000378:metabolism*; D003684:Dehydrocholesterols / Q000737:chemistry / Q000302:isolation & purification*; D005243:Feces / Q000737:chemistry; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D015394:Molecular Structure; D013577:Syndrome
D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol