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Review
. 2002 Sep;110(6):715-24.
doi: 10.1172/JCI16386.

Malformation syndromes due to inborn errors of cholesterol synthesis

Forbes D Porter  1
Affiliations
Review

Malformation syndromes due to inborn errors of cholesterol synthesis

Forbes D Porter. J Clin Invest. 2002 Sep.
No abstract available

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Figures

Figure 1
Figure 1
Cholesterol synthesis pathway and human malformation syndromes. The sterol ring structure and carbon position numbering are shown at the top of the figure. Human malformation syndromes are in boldface type. Cholesterol is synthesized from squalene in a series of enzymatic reactions denoted by numbers: 1, squalene monooxygenase and squalene cyclase; 2, lanosterol 14-α-demethylase; 3, 3β-hydroxysterol Δ14-reductase; 4, C4 demethylation complex (C4-sterol methyloxidase, C4-sterol decarboxylase [NSDHL], and 3-ketoreductase); 5, 3β-hydroxysterol Δ8,Δ7-isomerase; 6, lathosterol 5-desaturase; 7, 3β-hydroxysterol Δ7-reduct-ase; 8, 3β-hydroxysterol Δ24-reductase.
Figure 2
Figure 2
Phenotypic features of SLOS. (a–c) Facial appearance including microcephaly, ptosis, a small upturned nose, and micrognathia. (d) Hand malformations including postaxial polydactyly and a short thumb. (e) Second-third toe syndactyly. (f) Ambiguous genitalia in a 46, XY patient.
See this image and copyright information in PMC

References

    1. Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000;37:321–335. - PMC - PubMed
    1. Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol Genet Metab. 2000;71:163–174. - PubMed
    1. Kelley RI. Inborn errors of cholesterol biosynthesis. Adv Pediatr. 2000;47:1–53. - PubMed
    1. Tierney E, et al. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001;98:191–200. - PubMed
    1. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993;341:1414. - PubMed

MeSH terms