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Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin
1Department of Biochemistry and Molecular Biology, College of Medicine, University of South Florida, Tampa 33612, USA.
Insights
Smith-Lemli-Opitz syndrome (SLOS) is a severe genetic disorder. This case report details an infant with SLOS and hyperbilirubinemia, highlighting cholesterol metabolism defects and increased LDL receptors in tissues.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Pathology
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by a defect in cholesterol biosynthesis.
- Hyperbilirubinemia is a common complication in infants with severe genetic conditions.
- Early diagnosis and understanding of SLOS pathophysiology are crucial for potential interventions.
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.