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Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
BACKGROUND: This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (TT1) patients. STUDY DESIGN: Phenylalanine and tyrosine concentrations were stud...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118958/ https://www.ncbi.nlm.nih.gov/pubmed/32245393 http://dx.doi.org/10.1186/s13023-020-1343-7 |
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author | van Vliet, Kimber van Ginkel, Wiggert G. van Dam, Esther de Blaauw, Pim Koehorst, Martijn Kingma, Hermi A. van Spronsen, Francjan J. Heiner-Fokkema, M. Rebecca |
author_facet | van Vliet, Kimber van Ginkel, Wiggert G. van Dam, Esther de Blaauw, Pim Koehorst, Martijn Kingma, Hermi A. van Spronsen, Francjan J. Heiner-Fokkema, M. Rebecca |
author_sort | van Vliet, Kimber |
collection | PubMed |
description | BACKGROUND: This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (TT1) patients. STUDY DESIGN: Phenylalanine and tyrosine concentrations were studied in 45 PKU/TT1 patients in plasma from venous blood in lithium heparin (LH) and EDTA tubes; venous blood from LH and EDTA tubes on a DBS card; venous blood directly on a DBS card; and capillary blood on a DBS card. Plasma was analyzed with an amino acid analyzer and DBS were analyzed with liquid chromatography-mass spectrometry. Agreement between different methods was assessed using Passing and Bablok fit and Bland Altman analyses. RESULTS: In general, phenylalanine concentrations in LH plasma were comparable to capillary DBS, whereas tyrosine concentrations were slightly higher in LH plasma (constant bias of 6.4 μmol/L). However, in the low phenylalanine range, most samples had higher phenylalanine concentrations in DBS compared to LH plasma. Remarkably, phenylalanine and tyrosine in EDTA plasma were higher compared to all other samples (slopes ranging from 7 to 12%). No differences were observed when comparing capillary DBS to other DBS. CONCLUSIONS: Overall agreement between plasma and DBS is good. However, bias is specimen- (LH vs EDTA), and possibly concentration- (low phenylalanine) dependent. Because of the overall good agreement, we recommend the use of a DBS-plasma correction factor for DBS measurement. Each laboratory should determine their own factor dependent on filter card type, extraction and calibration protocols taking the LH plasma values as gold standard. |
format | Online Article Text |
id | pubmed-7118958 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-71189582020-04-07 Dried blood spot versus venous blood sampling for phenylalanine and tyrosine van Vliet, Kimber van Ginkel, Wiggert G. van Dam, Esther de Blaauw, Pim Koehorst, Martijn Kingma, Hermi A. van Spronsen, Francjan J. Heiner-Fokkema, M. Rebecca Orphanet J Rare Dis Research BACKGROUND: This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (TT1) patients. STUDY DESIGN: Phenylalanine and tyrosine concentrations were studied in 45 PKU/TT1 patients in plasma from venous blood in lithium heparin (LH) and EDTA tubes; venous blood from LH and EDTA tubes on a DBS card; venous blood directly on a DBS card; and capillary blood on a DBS card. Plasma was analyzed with an amino acid analyzer and DBS were analyzed with liquid chromatography-mass spectrometry. Agreement between different methods was assessed using Passing and Bablok fit and Bland Altman analyses. RESULTS: In general, phenylalanine concentrations in LH plasma were comparable to capillary DBS, whereas tyrosine concentrations were slightly higher in LH plasma (constant bias of 6.4 μmol/L). However, in the low phenylalanine range, most samples had higher phenylalanine concentrations in DBS compared to LH plasma. Remarkably, phenylalanine and tyrosine in EDTA plasma were higher compared to all other samples (slopes ranging from 7 to 12%). No differences were observed when comparing capillary DBS to other DBS. CONCLUSIONS: Overall agreement between plasma and DBS is good. However, bias is specimen- (LH vs EDTA), and possibly concentration- (low phenylalanine) dependent. Because of the overall good agreement, we recommend the use of a DBS-plasma correction factor for DBS measurement. Each laboratory should determine their own factor dependent on filter card type, extraction and calibration protocols taking the LH plasma values as gold standard. BioMed Central 2020-04-03 /pmc/articles/PMC7118958/ /pubmed/32245393 http://dx.doi.org/10.1186/s13023-020-1343-7 Text en © The Author(s). 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research van Vliet, Kimber van Ginkel, Wiggert G. van Dam, Esther de Blaauw, Pim Koehorst, Martijn Kingma, Hermi A. van Spronsen, Francjan J. Heiner-Fokkema, M. Rebecca Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title | Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title_full | Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title_fullStr | Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title_full_unstemmed | Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title_short | Dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
title_sort | dried blood spot versus venous blood sampling for phenylalanine and tyrosine |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118958/ https://www.ncbi.nlm.nih.gov/pubmed/32245393 http://dx.doi.org/10.1186/s13023-020-1343-7 |
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