Article
Licensed
Unlicensed
Requires Authentication
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience
-
Gaetano Corso
Published/Copyright:
August 24, 2011
Abstract
Background: 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.
Received: 2011-4-29
Accepted: 2011-6-26
Published Online: 2011-8-24
Published in Print: 2011-12-1
©2011 by Walter de Gruyter Berlin Boston
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Editorial
- Appropriate labelling of blood collection tubes: a step ahead towards patient’s safety
- Reviews
- New insights into adipose tissue dysfunction in insulin resistance
- Role of biomarkers in cardioncology
- Minireviews
- Measurement of the pro-hormone of brain type natriuretic peptide (proBNP): methodological considerations and pathophysiological relevance
- High-sensitivity troponin assays in the evaluation of patients with acute chest pain in the emergency department
- Opinion Paper
- Regulation of in vitro diagnostics (IVDs) for use in clinical diagnostic laboratories: towards the light or dark in clinical laboratory testing?
- Guidelines and Recommendations
- The Greek way to the Register: the establishment and operation of the Register for Clinical Chemists-Clinical Biochemists in Greece
- Genetics and Molecular Diagnostics
- Rapid HLA-B27 screening with real-time TaqMan PCR: a clinical validation in the Dutch population
- General Clinical Chemistry and Laboratory Medicine
- Results of the recalibration of creatinine measurement with the modular Beckman Coulter® Jaffe creatinine method
- Heterophilic antibody interference in commercial immunoassays; a screening study using paired native and pre-blocked sera
- Oxidative status in the lungs associated with tobacco smoke exposure
- Correlation of cortisol in 1-cm hair segment with salivary cortisol in human: hair cortisol as an endogenous biomarker
- Evaluation of the MassTrak Immunosuppressant XE Kit for the determination of everolimus and cyclosporin A in human whole blood employing isotopically labeled internal standards
- Simultaneous determination of cyclophosphamide and 4-hydroxycyclophosphamide in human plasma by high-performance liquid chromatography coupled with electrospray ionization tandem mass spectrometry – application to Chinese systemic lupus erythematosus patients
- Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience
- Chemistry and haematology sample rejection and clinical impact in a tertiary laboratory in Cape Town
- Trefoil factor family peptides are increased in the saliva of children with mucositis
- Validation of commercial assays for measurements of trefoil factor family peptides in serum
- To mix or not to mix venous blood samples collected in vacuum tubes?
- Rapid and simple IgG specific test for the exclusion of heparin induced thrombocytopenia (HIT)
- β-Thalassemia mutations in subjects with borderline HbA2 values: a pilot study in North India
- Cancer Diagnostics
- Genetic variants in miR-146a, miR-149, miR-196a2, miR-499 and their influence on relative expression in lung cancers
- The diagnostic accuracy of two human epididymis protein 4 (HE4) testing systems in combination with CA125 in the differential diagnosis of ovarian masses
- Infectious Diseases
- Measurement of granulocyte maturation may improve the early diagnosis of the septic state
- Cardiovascular Diseases
- Influence of hemolysis on troponin testing: studies on Beckman Coulter UniCel Dxl 800 Accu-TnI and overview of the literature
- Methylenetetrahydrofolate reductase C677T polymorphism and congenital heart disease: a meta-analysis
- Determination of asymmetric dimethyl arginine in human serum by liquid chromatography-tandem mass spectrometry: clinical application in hypertensive subjects
- Diabetes
- The optimal cut-points of HbA1c for detecting newly diagnosed diabetes and pre-diabetes in the Chinese population living in Sichuan
- Letters to the Editor
- Specimen labelling: before or after collection?
- Effect of storage conditions and freeze/thaw cycles on aquaporin-4 antibody (NMO-IgG) serum levels
- Comparison of vancomycin concentrations in blood and interstitial fluid: a possible model for less invasive therapeutic drug monitoring
- Acknowledgement
- Acknowledgement
Keywords for this article
cholesterol;
7-dehydrocholesterol;
multiple malformations;
Smith-Lemli-Opitz syndrome
Articles in the same Issue
- Editorial
- Appropriate labelling of blood collection tubes: a step ahead towards patient’s safety
- Reviews
- New insights into adipose tissue dysfunction in insulin resistance
- Role of biomarkers in cardioncology
- Minireviews
- Measurement of the pro-hormone of brain type natriuretic peptide (proBNP): methodological considerations and pathophysiological relevance
- High-sensitivity troponin assays in the evaluation of patients with acute chest pain in the emergency department
- Opinion Paper
- Regulation of in vitro diagnostics (IVDs) for use in clinical diagnostic laboratories: towards the light or dark in clinical laboratory testing?
- Guidelines and Recommendations
- The Greek way to the Register: the establishment and operation of the Register for Clinical Chemists-Clinical Biochemists in Greece
- Genetics and Molecular Diagnostics
- Rapid HLA-B27 screening with real-time TaqMan PCR: a clinical validation in the Dutch population
- General Clinical Chemistry and Laboratory Medicine
- Results of the recalibration of creatinine measurement with the modular Beckman Coulter® Jaffe creatinine method
- Heterophilic antibody interference in commercial immunoassays; a screening study using paired native and pre-blocked sera
- Oxidative status in the lungs associated with tobacco smoke exposure
- Correlation of cortisol in 1-cm hair segment with salivary cortisol in human: hair cortisol as an endogenous biomarker
- Evaluation of the MassTrak Immunosuppressant XE Kit for the determination of everolimus and cyclosporin A in human whole blood employing isotopically labeled internal standards
- Simultaneous determination of cyclophosphamide and 4-hydroxycyclophosphamide in human plasma by high-performance liquid chromatography coupled with electrospray ionization tandem mass spectrometry – application to Chinese systemic lupus erythematosus patients
- Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience
- Chemistry and haematology sample rejection and clinical impact in a tertiary laboratory in Cape Town
- Trefoil factor family peptides are increased in the saliva of children with mucositis
- Validation of commercial assays for measurements of trefoil factor family peptides in serum
- To mix or not to mix venous blood samples collected in vacuum tubes?
- Rapid and simple IgG specific test for the exclusion of heparin induced thrombocytopenia (HIT)
- β-Thalassemia mutations in subjects with borderline HbA2 values: a pilot study in North India
- Cancer Diagnostics
- Genetic variants in miR-146a, miR-149, miR-196a2, miR-499 and their influence on relative expression in lung cancers
- The diagnostic accuracy of two human epididymis protein 4 (HE4) testing systems in combination with CA125 in the differential diagnosis of ovarian masses
- Infectious Diseases
- Measurement of granulocyte maturation may improve the early diagnosis of the septic state
- Cardiovascular Diseases
- Influence of hemolysis on troponin testing: studies on Beckman Coulter UniCel Dxl 800 Accu-TnI and overview of the literature
- Methylenetetrahydrofolate reductase C677T polymorphism and congenital heart disease: a meta-analysis
- Determination of asymmetric dimethyl arginine in human serum by liquid chromatography-tandem mass spectrometry: clinical application in hypertensive subjects
- Diabetes
- The optimal cut-points of HbA1c for detecting newly diagnosed diabetes and pre-diabetes in the Chinese population living in Sichuan
- Letters to the Editor
- Specimen labelling: before or after collection?
- Effect of storage conditions and freeze/thaw cycles on aquaporin-4 antibody (NMO-IgG) serum levels
- Comparison of vancomycin concentrations in blood and interstitial fluid: a possible model for less invasive therapeutic drug monitoring
- Acknowledgement
- Acknowledgement
