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Pathway Description
Smith-Lemli-Opitz Syndrome (SLOS)
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-11-09
The autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) is characterized by disordered steroid biosynthesis. It results from a mutation in the DHCR7 gene coding for the enzyme sterol delta-7-reducatase. This enzyme catalyzes the production of cholesterol by reducing the C7-C8 double bond of 7-dehydrocholesterol (7-DHC). SLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine. All patients with SLOS have mental retardation, and symptoms include ambiguous genitalia, hypotonia, microcephaly, syndactyly, limb abnormalities and deformities and polydactyly.
References
Smith-Lemli-Opitz Syndrome (SLOS) References
[OMIM: Entry 270400](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400)
Lund E, Starck L, Venizelos N: Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1996;19(1):59-64.
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Pubmed: 9024557
Nowaczyk MJM: Smith-Lemli-Opitz Syndrome
Pubmed: 20301322
Steroid Biosynthesis References
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Pubmed: 14574404
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