Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Metabolic disorders (E70-E88)»Smith-Lemli-Opitz syndrome (E78.72)
E78.72
Smith-Lemli-Opitz syndrome
Related indications (MeSH) (1)
Smith-Lemli-Opitz Syndrome6 drugs (3 approved, 3 experimental)
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.