Increased Expression of Low-density Lipoprotein Receptors in a Smith-Lemli-Opitz Infant with Elevated Bilirubin Levels

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1997 Jan 31

PMID 9024562

Citations 7

Authors

G C Ness

D Lopez

O Borrego

E Gilbert-Barness

Affiliations

Soon will be listed here.

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.

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