✦ LIBER ✦

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels

✍ Scribed by Ness, Gene C.; Lopez, Dayami; Borrego, Orestes; Gilbert-Barness, Enid

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 469 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m

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✦ Synopsis

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.