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Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.

AbstractBACKGROUND:
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis.
METHODS:
Gas chromatography/mass spectrometry was used to obtain sterol profiles in plasma and erythrocyte membranes of suspected patients.
RESULTS:
Plasma sterol reference values calculated in unaffected subjects (n=276) were in agreement with those previously reported. Among patients investigated from 2005 to 2010, we report 16 patients affected by Smith-Lemli-Opitz syndrome, three of whom represent new cases and 13 of whom were follow-up patients. In this period we also identified a new case of chondrodysplasia punctata 2 X-linked. The estimated incidence obtained for Smith-Lemli-Opitz syndrome was 1:93 suspected patients (1.08%). We also studied the effect of storage on the dehydrocholesterols/cholesterol ratio in plasma and erythrocyte membranes of patients affected by Smith-Lemli-Opitz syndrome stored at -20°C for up to 22 and 20 months, respectively. A significant negative linear correlation between storage time and the dehydrocholesterols/cholesterol ratio was identified in both plasma and erythrocyte membranes. The decrease in the dehydrocholesterols/cholesterol ratio in erythrocyte membranes was at least two-fold higher than in plasma.
CONCLUSIONS:
The results of this study may be helpful for diagnosis and interpretation of data in patients with findings suggestive of a cholesterol biosynthesis defect.
AuthorsGaetano Corso, Monica Gelzo, Rosalba Barone, Stefano Clericuzio, Pierluigi Pianese, Angela Nappi, Antonio Dello Russo
JournalClinical chemistry and laboratory medicine (Clin Chem Lab Med) Vol. 49 Issue 12 Pg. 2039-46 (Aug 24 2011) ISSN: 1437-4331 [Electronic] Germany
PMID21864209 (Publication Type: Journal Article)
Chemical References
  • Dehydrocholesterols
  • Cholesterol
Topics
  • Adolescent
  • Child
  • Child, Preschool
  • Cholesterol (analysis, blood)
  • Chondrodysplasia Punctata (blood, diagnosis)
  • Dehydrocholesterols (analysis, blood)
  • Erythrocyte Membrane (chemistry)
  • Female
  • Follow-Up Studies
  • Gas Chromatography-Mass Spectrometry
  • Genetic Diseases, X-Linked (blood, diagnosis)
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Smith-Lemli-Opitz Syndrome (blood, diagnosis, epidemiology)
  • Young Adult

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