NDLI: LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

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LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Klinke, Glynis Rohrbach, Marianne Giugliani, Roberto Burda, Patricie Baumgartner, Matthias R. Tran, Christel Gautschi, Matthias Mathis, Déborah Hersberger, Martin
Description	Country affiliation: Switzerland Author Affiliation: Klinke G ( Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland); Rohrbach M ( Division of Metabolism, Children's Research Center, University Children's Hospital Zurich, Switzerland.); Giugliani R ( Medical Genetics Service, HCPA, Porto Alegre, Brazil); Burda P ( Division of Metabolism, Children's Research Center, University Children's Hospital Zurich, Switzerland.); Baumgartner MR ( Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland); Tran C ( Center for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland.); Gautschi M ( Paediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital Bern, Switzerland); Mathis D ( Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland.); Hersberger M ( Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland)
Abstract	BACKGROUND: Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and on reference intervals in children and adolescents are lacking. METHODS: We established a LC-MS/MS assay to measure Cholestane-3ß, 5 , 6ß-triol (C-triol) and 7-Ketocholesterol (7-KC) following Steglich esterification. To assess reference intervals and intra-individual variation we determined oxysterols in 148 children and adolescents from 0 to 18 years and repeat measurements in 19 of them. RESULTS: The reported method is linear (r>0.99), sensitive (detection limit of 0.03 ng/mL [0.07 nM] for C-triol, and 0.54 ng/mL [1.35 nM] for 7-KC) and precise, with an intra-day imprecision of 4.8% and 4.1%, and an inter-day imprecision of 7.0% and 11.0% for C-triol (28 ng/ml, 67 nM) and 7-KC (32 ng/ml, 80 nM), respectively. Recoveries for 7-KC and C-triol range between 93% and 107%. The upper reference limit obtained for C-triol is 40.4 ng/mL (95% CI: 26.4-61.7 ng/mL, 96.0 nM, 95% CI: 62.8-146.7 nM) and 75.0 ng/mL for 7-KC (95% CI: 55.5-102.5 ng/mL, 187.2 nM, 95% CI: 138.53-255.8 nM), with no age or gender dependency. Both oxysterols have a broad intra-individual variation of 46%±23% for C-triol and 52%±29% for 7-KC. Nevertheless, all Niemann-Pick patients showed increased C-triol levels including Niemann-Pick type A and B patients. CONCLUSIONS: The LC-MS/MS assay is a robust assay to quantify C-triol and 7-KC in plasma with well documented reference intervals in children and adolescents to screen for NP-C in the pediatric population. In addition our results suggest that especially the C-triol is a biomarker for all three Niemann-Pick diseases.
File Format	HTM / HTML
ISSN	00099120
Issue Number	9
Volume Number	48
e-ISSN	18732933
Journal	Clinical Biochemistry
Language	English
Publisher	Elsevier
Publisher Date	2015-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Biochemistry Cholestanols Blood Chromatography, Liquid Methods Ketocholesterols Niemann-pick Diseases Diagnosis Tandem Mass Spectrometry Adolescent Biological Markers Child Child, Preschool Female Humans Infant Infant, Newborn Limit Of Detection Male Reference Values Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Medicine Clinical Biochemistry

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