Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.
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.
Ness
G C
GC
Department of Biochemistry and Molecular Biology, College of Medicine, University of South Florida, Tampa 33612, USA.
Lopez
D
D
Borrego
O
O
Gilbert-Barness
E
E
D001663:Bilirubin / Q000378:metabolism*; D001921:Brain / Q000378:metabolism / Q000473:pathology; D003684:Dehydrocholesterols / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology; D010179:Pancreas / Q000473:pathology; D011973:Receptors, LDL / Q000378:metabolism*; D019082:Smith-Lemli-Opitz Syndrome / Q000378:metabolism* / Q000473:pathology
D003684:Dehydrocholesterols; D011973:Receptors, LDL; C016705:7-dehydrocholesterol; D001663:Bilirubin