Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7...

Full description

Bibliographic Details
Main Authors: G Salen, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias
Format: Article
Language:English
Published: Elsevier 1996-01-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S002222752039146X
id doaj-b665f78ca9a84da79f8cc533271b7db1
record_format Article
spelling doaj-b665f78ca9a84da79f8cc533271b7db12021-04-26T05:49:29ZengElsevierJournal of Lipid Research0022-22751996-01-0137611691180Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.G Salen0S Shefer1A K Batta2G S Tint3G Xu4A Honda5M Irons6E R Elias7VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.VA Medical Center, East Orange, NJ 07019, USA.The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.http://www.sciencedirect.com/science/article/pii/S002222752039146X
collection DOAJ
language English
format Article
sources DOAJ
author G Salen
S Shefer
A K Batta
G S Tint
G Xu
A Honda
M Irons
E R Elias
spellingShingle G Salen
S Shefer
A K Batta
G S Tint
G Xu
A Honda
M Irons
E R Elias
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Journal of Lipid Research
author_facet G Salen
S Shefer
A K Batta
G S Tint
G Xu
A Honda
M Irons
E R Elias
author_sort G Salen
title Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
title_short Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
title_full Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
title_fullStr Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
title_full_unstemmed Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
title_sort abnormal cholesterol biosynthesis in the smith-lemli-opitz syndrome.
publisher Elsevier
series Journal of Lipid Research
issn 0022-2275
publishDate 1996-01-01
description The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.
url http://www.sciencedirect.com/science/article/pii/S002222752039146X
work_keys_str_mv AT gsalen abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT sshefer abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT akbatta abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT gstint abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT gxu abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT ahonda abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT mirons abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
AT erelias abnormalcholesterolbiosynthesisinthesmithlemliopitzsyndrome
_version_ 1721508581534072832

Similar Items