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...
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1996-01-01
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Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S002222752039146X |
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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 |
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