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Pathway Description
Smith-Lemli-Opitz Syndrome (SLOS)
Homo sapiens
Disease Pathway
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
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. doi: 10.1007/BF01799349.
Pubmed: 8830178
Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F: Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet. 1987 Jan;26(1):65-7. doi: 10.1002/ajmg.1320260112.
Pubmed: 3812579
Chasalow FI, Blethen SL, Taysi K: Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids. 1985 Oct-Nov;46(4-5):827-43. doi: 10.1016/0039-128x(85)90032-7.
Pubmed: 3018967
Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI: Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997 Jan 31;68(3):263-9.
Pubmed: 9024557
Nowaczyk MJM, Wassif CA: Smith-Lemli-Opitz Syndrome
Pubmed: 20301322
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Simons J: The $10 billion pill. Fortune. 2003 Jan 20;147(1):58-62, 66, 68.
Pubmed: 12602122
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