: MeSH: Smith-Lemli-Opitz Syndrome

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Smith-Lemli-Opitz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Smith-Lemli-Opitz Syndrome

Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

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An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

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