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Page 1
Cholesterol precursors: more than mere markers of biosynthesis.
Brown AJ, Ikonen E, Olkkonen VM. Brown AJ, et al. Curr Opin Lipidol. 2014 Apr;25(2):133-9. doi: 10.1097/MOL.0000000000000038. Curr Opin Lipidol. 2014. PMID: 24378747 Review.
Secondly, we explore the interplay between cholesterol precursors (7-dehydrocholesterol and desmosterol) and the enzymes that act upon them (DHCR7 and DHCR24) in the context of liver disease. For instance, recent findings indicate that circulating desmosterol is …
Secondly, we explore the interplay between cholesterol precursors (7-dehydrocholesterol and desmosterol) and the enzymes that …
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Schaefer EJ, Tint GS, Duell PB, Steiner RD. Schaefer EJ, et al. J Clin Lipidol. 2021 Jul-Aug;15(4):540-544. doi: 10.1016/j.jacl.2021.05.004. Epub 2021 May 28. J Clin Lipidol. 2021. PMID: 34140251 Review.
CTX may present with chronic diarrhea, juvenile onset cataracts, strikingly large xanthomas, and neurologic disease in the setting of a normal serum cholesterol, but markedly elevated serum or plasma cholestanol levels. These patients have a defect in producing the bile ac …
CTX may present with chronic diarrhea, juvenile onset cataracts, strikingly large xanthomas, and neurologic disease in the setting of a norm …
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome.
Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A. Salen G, et al. J Inherit Metab Dis. 1996;19(4):391-400. doi: 10.1007/BF01799100. J Inherit Metab Dis. 1996. PMID: 8884563 Review.
The Smith-Lemli-Opitz syndrome is caused by a block in the last reaction in the cholesterol biosynthetic pathway, the conversion of 7-dehydrocholesterol to cholesterol, which is catalysed by 7-dehydrocholesterol delta 7-reductase. As a result, low plas …
The Smith-Lemli-Opitz syndrome is caused by a block in the last reaction in the cholesterol biosynthetic pathway, the conversion of 7 …
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB. Nowaczyk MJ, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Am J Med Genet C Semin Med Genet. 2012. PMID: 23059950 Review.
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. SLOS is inherited in an autosom …
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol sy …
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
Elias ER, Irons M. Elias ER, et al. Curr Opin Pediatr. 1995 Dec;7(6):710-4. doi: 10.1097/00008480-199512000-00015. Curr Opin Pediatr. 1995. PMID: 8776024 Review.
This defect results in markedly reduced cholesterol levels and abnormal accumulation of cholesterol precursors, particularly 7-dehydrocholesterol. This newly described metabolic defect in humans is one of only a few metabolic errors known to cause multiple birth def …
This defect results in markedly reduced cholesterol levels and abnormal accumulation of cholesterol precursors, particularly 7-deh …
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H, Patel SB. Yu H, et al. Clin Genet. 2005 Nov;68(5):383-91. doi: 10.1111/j.1399-0004.2005.00515.x. Clin Genet. 2005. PMID: 16207203 Free PMC article. Review.
DHCR7 deficiency impairs both cholesterol and desmosterol production, resulting in elevated 7DHC/8DHC levels, typically decreased cholesterol levels and, importantly, developmental dysmorphology. ...
DHCR7 deficiency impairs both cholesterol and desmosterol production, resulting in elevated 7DHC/8DHC levels, typically decreased cho …
[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
Koczok K, V Oláh A, P Szabó G, Oláh É, Török O, Balogh I. Koczok K, et al. Orv Hetil. 2015 Oct 18;156(42):1695-702. doi: 10.1556/650.2015.30256. Orv Hetil. 2015. PMID: 26551309 Review. Hungarian.
Since 2004, fourteen patients have been diagnosed with Smith-Lemli-Opitz syndrome in Hungary, which suggests an underdiagnosis of the disease based upon estimated incidence data. Due to deficiency of the 7-dehydrocholesterol reductase, serum cholesterol concentratio …
Since 2004, fourteen patients have been diagnosed with Smith-Lemli-Opitz syndrome in Hungary, which suggests an underdiagnosis of the diseas …
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
Porter FD. Porter FD. Mol Genet Metab. 2000 Sep-Oct;71(1-2):163-74. doi: 10.1006/mgme.2000.3069. Mol Genet Metab. 2000. PMID: 11001807 Review.
RSH/SLOS is due to a deficiency of the 3beta-hydroxysterol Delta(7)-reductase, which catalyzes the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. This inborn error of cholesterol biosynthesis results in elevated serum and tissue 7-DHC levels. ...
RSH/SLOS is due to a deficiency of the 3beta-hydroxysterol Delta(7)-reductase, which catalyzes the reduction of 7-dehydrocholester …
Smith-Lemli-Opitz syndrome: a review, case report and dental implications.
Muzzin KB, Harper LF. Muzzin KB, et al. Spec Care Dentist. 2003;23(1):22-7. doi: 10.1111/j.1754-4505.2003.tb00285.x. Spec Care Dentist. 2003. PMID: 12887150 Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive developmental disorder characterized by multiple congenital malformations, dysmorphic craniofacial features, and mental impairment. SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol delta7 r …
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive developmental disorder characterized by multiple congenital malformations, dysmo …
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. Weaver DD, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):142-5. doi: 10.1002/ajmg.c.30241. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104611 Free PMC article. Review.
Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890 ng/ml; normal …
Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The …