Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
1982-05-01
|
Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S002222752038127X |
_version_ | 1818459760327917568 |
---|---|
author | N B Javitt E Kok B Cohen S Burstein |
author_facet | N B Javitt E Kok B Cohen S Burstein |
author_sort | N B Javitt |
collection | DOAJ |
description | Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism. |
first_indexed | 2024-12-14T23:19:28Z |
format | Article |
id | doaj.art-5998cdd1179f4d3da3315dee746410fc |
institution | Directory Open Access Journal |
issn | 0022-2275 |
language | English |
last_indexed | 2024-12-14T23:19:28Z |
publishDate | 1982-05-01 |
publisher | Elsevier |
record_format | Article |
series | Journal of Lipid Research |
spelling | doaj.art-5998cdd1179f4d3da3315dee746410fc2022-12-21T22:44:00ZengElsevierJournal of Lipid Research0022-22751982-05-01234627630Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.N B JavittE KokB CohenS BursteinSerum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.http://www.sciencedirect.com/science/article/pii/S002222752038127X |
spellingShingle | N B Javitt E Kok B Cohen S Burstein Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. Journal of Lipid Research |
title | Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. |
title_full | Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. |
title_fullStr | Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. |
title_full_unstemmed | Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. |
title_short | Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol. |
title_sort | cerebrotendinous xanthomatosis reduced serum 26 hydroxycholesterol |
url | http://www.sciencedirect.com/science/article/pii/S002222752038127X |
work_keys_str_mv | AT nbjavitt cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol AT ekok cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol AT bcohen cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol AT sburstein cerebrotendinousxanthomatosisreducedserum26hydroxycholesterol |