Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels
- 31 January 1997
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 68 (3) , 294-299
- https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m
Abstract
We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs. Am. J. Med. Genet. 68:294–299, 1997.Keywords
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