Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

Journal of Inherited Metabolic Disease

Volumn 30, Issue 3, 2007, Pages 375-387

  Haas, Dorothea ^a   Garbade, S F ^a   Vohwinkel, C ^a   Muschol, N ^b   Trefz, F K ^c   Penzien, J M ^d   Zschocke, J ^a   Hoffmann, G F ^a   Burgard, P ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d KLINIKUM AUGSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; BENZODIAZEPINE DERIVATIVE; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; PROMETHAZINE; SIMVASTATIN; STEROL DERIVATIVE;

ABSENCE OF SIDE EFFECTS; ADULT; AGGRESSIVENESS; ANTHROPOMETRY; ANXIETY; ARTICLE; AUTOMUTILATION; BEHAVIOR DISORDER; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIET SUPPLEMENTATION; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG MEGADOSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FEMALE; GAS CHROMATOGRAPHY; HUMAN; INSOMNIA; MALE; MASS SPECTROMETRY; MONOTHERAPY; SIDE EFFECT; SLEEP DISORDER; SMITH LEMLI OPITZ SYNDROME; STATISTICAL ANALYSIS; WEIGHT GAIN;

CHILD; CHOLESTEROL; COHORT STUDIES; DIETARY SUPPLEMENTS; ENTERAL NUTRITION; FEMALE; GENOTYPE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; MALE; SIMVASTATIN; SMITH-LEMLI-OPITZ SYNDROME;

EID: 34249981139     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0537-7     Document Type: Article

References (29)

1. Azurdia RM, Anstey AV, Rhodes LE (2001) Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. Br J Dermatol 144: 143-145.
2. Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, et al (2004) DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Clin Genet 66: 517-524.
3. Cole TJ (1990) The LMS method for constructing normalized growth standards. Eur J Clin Nutr 44: 45-60.
4. Correa-Cerro LS, Wassif CA, Waye JS, et al (2005) DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. J Med Genet 42: 350-357.
5. Correa-Cerro LS, Wassif CA, Kratz L et al (2006) Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet 15: 839-851.
6. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI (1997) Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68: 263-269.
7. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G (1997) Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 68: 305-310.
8. Fitzky BU, Witsch-Baumgartner M, Erdel M, et al (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95: 8181-8186.
9. Haas D, Kelley RI, Hoffmann GF (2001) Inherited disorders of cholesterol biosynthesis. Neuropediatrics 32: 113-122.
10. Irons M, Elias ER, Abuelo D, et al (1997) Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial. Am J Med Genet 68: 311-314.
11. Jira PE, Wevers RA, de Jong J, et al (2000) Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res 41: 1339-1346.
12. Kelley RI (1995) Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236: 45-58.
13. Kelley RI, Hennekam RC (2000) The Smith-Lemli-Opitz syndrome. J Med Genet 37: 321-335.
14. Kromeyer-Hauschild K, Wabitsch M, Kunze D, et al (2001) Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben. Monatsschr Kinderheilkd 149: 807-818.
15. Lin DS, Steiner RD, Flavell DP, Connor WE (2005) Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. Pediatr Res 57: 765-770.
16. Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD (2000) Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 93: 360-365.
17. Nowaczyk MJ, Waye JS, Douketis JD (2006) DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients? Am J Med Genet A 140: 2057-2062.
18. Nwokoro NA, Mulvihill JJ (1997) Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet 68: 315-321.
19. Prader A, Largo RH, Molinari L, Issler C (1988) Physical growth of Swiss children from birth to 20 years of age. Helv Paediatr Acta 43: 58-59.
20. Schneider B (2001) Analysis of therapeutic efficacy in observational cohort studies. Cancer Chemother Pharmacol 47 (Suppl): S35-S37.
21. Siegel AF (1982) Robust regression using repeated medians. Biometrika 69: 242-244.
22. Sikora DM, Ruggiero M, Petit-Kekel K, Merkens LS, Connor WE, Steiner RD (2004) Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr 144: 783-791.
23. Starck L, Bjorkhem I, Ritzen EM, Nilsson BY, von Dobeln U (1999) Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty. Acta Paediatr 88: 729-733.
24. Starck L, Lovgren-Sandblom A, Bjorkhem I (2002) Simvastatin treatment in the SLO syndrome: A safe approach? Am J Med Genet 113: 183-189.
25. Tint GS, Irons M, Elias ER, et al (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107-113.
26. Wassif CA, Maslen C, Kachilele-Linjewile S, et al (1998) Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63: 55-62.
27. Wassif CA, Krakowiak PA, Wright BS, et al (2005) Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab 85: 96-107.
28. Waterham HR, Wijburg FA, Hennekam RC, et al (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63: 329-338.
29. Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, et al (2000) Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 66: 402-412.