The Acylcarnitine Profile in Dried Blood Spots is Affected by Hematocrit: A Study of Newborn Screening Samples in Very-Low-Birth-Weight Infants

Abstract

Objective The acylcarnitine profile is analyzed in dried blood spots (DBS) to screen for inborn errors of metabolism. Hematocrit (Ht) is known to affect the result of quantitative analyses of DBS samples; however, the effects of Ht on the acylcarnitine profiles in DBS have not been studied in actual samples from newborns.

Study Design The acylcarnitine profiles in DBS for newborn screening tests and Ht levels of very-low-birth-weight infants were obtained from medical records. We investigated the relationship between Ht and each acylcarnitine using Pearson's correlation coefficient (r).

Results We examined 77 newborns in this study. There was a significantly positive correlation between Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH, respectively (p < 0.0025). The correlation was the greatest on C2 (r = 0.59).

Conclusion This study clarifies that Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH are significantly correlated in DBS, which is consistent with previous studies. Hence, the effect of Ht should be considered when interpreting the results of acylcarnitine profiles in DBS.

Key Points

• Acylcarnitine profile in dried blood spots (DBS) is affected by the hematocrit (Ht) of the sample.

• There are positive correlations between Ht and C0, C2, C12, C16, C18, and C18:1-OH in DBS.

• We should be aware of the effects of Ht on acylcarnitine profiles in DBS.

Keywords

acylcarnitine profile - mass-spectrometry - dried blood spots - hematocrit

Publikationsverlauf

Eingereicht: 29. Juni 2020

Angenommen: 16. November 2020

Artikel online veröffentlicht:
29. Dezember 2020

• References

• 1 Fernández-Lainez C, Aguilar-Lemus JJ, Vela-Amieva M, Ibarra-González I. Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: abnormal profile interpretation. Curr Med Chem 2012; 19 (26) 4511-4522
• 2 Gucciardi A, Zaramella P, Costa I. et al. Analysis and interpretation of acylcarnitine profiles in dried blood spot and plasma of preterm and full-term newborns. Pediatr Res 2015; 77 (1-1): 36-47
• 3 Zytkovicz TH, Fitzgerald EF, Marsden D. et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 2001; 47 (11) 1945-1955
• 4 Wagner M, Tonoli D, Varesio E, Hopfgartner G. The use of mass spectrometry to analyze dried blood spots. Mass Spectrom Rev 2016; 35 (03) 361-438
• 5 Holub M, Tuschl K, Ratschmann R. et al. Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta 2006; 373 (1-2): 27-31
• 6 Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963; 32: 338-343
• 7 Lawson AJ, Bernstone L, Hall SK. Newborn screening blood spot analysis in the UK: influence of spot size, punch location and haematocrit. J Med Screen 2016; 23 (01) 7-16
• 8 Velghe S, Delahaye L, Stove CP. Is the hematocrit still an issue in quantitative dried blood spot analysis?. J Pharm Biomed Anal 2019; 163: 188-196
• 9 Hall EM, Flores SR, De Jesús VR. Influence of hematocrit and total-spot volume on performance characteristics of dried blood spots for newborn screening. Int J Neonatal Screen 2015; 1 (02) 69-78
• 10 Shenai JP, Borum PR, Mohan P, Donlevy SC. Carnitine status at birth of newborn infants of varying gestation. Pediatr Res 1983; 17 (07) 579-582
• 11 de Sain-van der Velden MG, Diekman EF, Jans JJ. et al. Differences between acylcarnitine profiles in plasma and bloodspots. Mol Genet Metab 2013; 110 (1-2): 116-121
• 12 Shigematsu Y, Hata I. Serum and urine acylcarnitine anaylisis. Jpn J Pediatr Med 2014; 46 (04) 506-509
• 13 Cooper MB, Forte CA, Jones DA. Carnitine and acetylcarnitine in red blood cells. Biochim Biophys Acta 1988; 959 (02) 100-105
• 14 De Kesel PM, Capiau S, Stove VV, Lambert WE, Stove CP. Potassium-based algorithm allows correction for the hematocrit bias in quantitative analysis of caffeine and its major metabolite in dried blood spots. Anal Bioanal Chem 2014; 406 (26) 6749-6755
• 15 Capiau S, Wilk LS, Aalders MC, Stove CPA. A novel, nondestructive, dried blood spot-based hematocrit prediction method using noncontact diffuse reflectance spectroscopy. Anal Chem 2016; 88 (12) 6538-6546
• 16 Oostendorp M, El Amrani M, Diemel EC, Hekman D, van Maarseveen EM. Measurement of hematocrit in dried blood spots using near-infrared spectroscopy: robust, fast, and nondestructive. Clin Chem 2016; 62 (11) 1534-1536