NDLI: Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.

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Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.

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Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dewilde, Amy Sadilkova, Katerina Sadilek, Martin Vasta, Valeria Hahn, Si Houn
Description	Country affiliation: United States Author Affiliation: deWilde A ( Seattle Children's Hospital Research Institute, Seattle, WA, USA.)
Abstract	BACKGROUND: Newborn screening to identify infants with treatable congenital disorders is carried out worldwide. Recent tandem mass spectrometry (MS/MS) applications have markedly expanded the ability to screen for >50 metabolic diseases with a single dried blood spot (DBS). The feature that makes metabolic disorders particularly amenable to screening is the presence of specific small-molecule metabolites. Many treatable disorders such as Wilson disease, however, are characterized by absent or diminished large proteins in plasma or within circulating blood cells, for which there are currently no cost-effective screening methods. METHODS: We developed an assay for quantifying ceruloplasmin (CP) in DBS for newborn screening of Wilson disease. CP-specific peptides from DBS samples digested by trypsin were quantified using isotopically labeled peptide internal standards and liquid chromatography-triple quadrupole mass spectrometry (LC-MS/MS). RESULTS: The calibration curve was linear from 20 to 95 mg/dL (200-950 mg/L). Intraassay imprecision (mean CV) for CP concentrations of 25, 35, and 55 mg/dL (250, 350, and 550 mg/L) was 9.2%, 10.7%, and 10.2%, respectively. Interassay imprecision for 19 different batches was 8.9%, 5.8%, and 6.9%. A method comparison study on previously tested patient samples for CP gave comparable results with lower limit of quantification, around 0.7 mg/dL (7 mg/L). CONCLUSIONS: Our study supports that newborn screening for Wilson disease is feasible using LC-MS/MS assay for CP quantification in DBS after tryptic digestion. This approach should be applicable to newborn screening for other treatable genetic conditions, such as primary immunodeficiencies, that have large proteins as biomarkers.
File Format	HTM / HTML
ISSN	00099147
e-ISSN	15308561
Journal	Clinical Chemistry
Issue Number	12
Volume Number	54
Language	English
Publisher	American Association for Clinical Chemistry
Publisher Date	2008-12-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Ceruloplasmin Sensitivity And Specificity Discipline Laboratory Medicine Neonatal Screening Epidemiology Feasibility Studies Tandem Mass Spectrometry Trypsin Discipline Clinical Chemistry Blood Specimen Collection Chromatography, Liquid Hepatolenticular Degeneration Infant, Newborn
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Clinical Biochemistry

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