Advertisement

The Indian Journal of Pediatrics

, Volume 63, Issue 2, pp 143–147 | Cite as

Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome

  • Ashok K. Batta
  • Gsrald Salen
Annotation
  • 23 Downloads

Keywords

Cholesterol Bile Acid Salen Lanosterol Desmosterol 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalis.J. Pediatr 1964; 64: 210–217.PubMedCrossRefGoogle Scholar
  2. 2.
    Opitz JM: RSH/SLO (“Smith-Lemli-Opitz”) syndrome: historical, genetic, and developmental considerations.Am J Med Genet 1994; 50: 344–346.PubMedCrossRefGoogle Scholar
  3. 3.
    Irons M, Elias ER, Salen Get al. Defective cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome [Letter].Lancet 1993; 47: 1414.CrossRefGoogle Scholar
  4. 4.
    Tint GS, Irons M, Elias ERet al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.N Engl J Med 1994; 330: 107–113.PubMedCrossRefGoogle Scholar
  5. 5.
    Batta AK, Tint GS, Shefer Set al. Identification of 8-dehydrocholesterol (cholesta 5,8-dien-3-β-ol) in patients with the Smith-Lemli-Opitz syndrome.J Lipid Res 1990; 36: 705–713.Google Scholar
  6. 6.
    Honda A, Tint GS, Salen Get al. Defective conversion of 7-dehydrocholesyetol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.J Lipid Res 1995; 36: 1595–1601.PubMedGoogle Scholar
  7. 7.
    Repetto M, Mazziere JC, Citadelle Det al. Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro.Teratol 1990; 42: 611–618.CrossRefGoogle Scholar
  8. 8.
    Abuelo DN, Tint GS, Kelly Ret al. Prenatal diagnosis of the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.Am J Med Genet 1995; 56: 281–285.PubMedCrossRefGoogle Scholar
  9. 9.
    Tint GS, Seller M, Hughes-Benzie Ret al. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.J Lipid Res 1995; 36: 89–95.PubMedGoogle Scholar
  10. 10.
    Irons M, Elias ER, Tint GSet al. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.Am J Med Genet 1994; 50: 347–352.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 1996

Authors and Affiliations

  • Ashok K. Batta
    • 1
    • 2
  • Gsrald Salen
    • 1
    • 2
  1. 1.Department of MedicineUMDNJ-NJ Medical SchoolNewark
  2. 2.Gl Section (15A)VA Medical CenterEast OrangeUSA

Personalised recommendations