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Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

Carling, Rachel S., Barclay, Zoe, Cantley, Nathan, Emmett, Erin C., Hogg, Sarah L., Finezilber, Yael, Schulenburg-Brand, Danja, Murphy, Elaine and Moat, Stuart J. 2023. Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices. JIMD Reports 64 (6) , pp. 468-476. 10.1002/jmd2.12398

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Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in methodology, calibration approach and assumptions about the volume of blood in a DBS sub‐punch has complicated this. Volumetric blood collection devices (VBCDs) provide an opportunity to re‐evaluate this relationship. Paired venous and capillary samples were collected from patients with PKU (n = 51). Capillary blood was collected onto both conventional newborn screening (NBS) cards and VBCDs. Specimens were analysed by liquid‐chromatography tandem mass‐spectrometry (LC–MS/MS) using a common calibrator. Use of VBCDs was evaluated qualitatively by patients. Mean bias between plasma and volumetrically collected capillary DBS Phe was −13%. Mean recovery (SD) of Phe from DBS was 89.4% (4.6). VBCDs confirmed that the volume of blood typically assumed to be present in a 3.2 mm sub‐punch is over‐estimated by 9.7%. Determination of the relationship between plasma and capillary DBS Phe, using a single analytical method, common calibration and VBCDs, demonstrated that once the under‐recovery of Phe from DBS has been taken into account, there is no significant difference in the concentration of Phe in plasma and capillary blood. Conversely, comparison of plasma Phe with capillary DBS Phe collected on a NBS card highlighted the limitations of this approach. Introducing VBCDs for the routine monitoring of patients with PKU would provide a simple, acceptable specimen collection technique that ensures consistent sample quality and produces accurate and precise blood Phe results which are interchangeable with plasma Phe.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Additional Information: License information from Publisher: LICENSE 1: URL:
Publisher: John Wiley & Sons, Inc.
ISSN: 2192-8312
Date of First Compliant Deposit: 18 October 2023
Date of Acceptance: 2 October 2023
Last Modified: 31 May 2024 21:23

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