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Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples

  • Newborn Screening
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of sensitivity and specificity of newborn screening for certain disorders. We have analyzed 92 pairs of dried blood samples taken pre- and one hour postprandially, respectively. We have determined the mean increase in metabolite concentration and calculated its significance. Individual variation after an overnight fast in healthy adults (n = 3) was between 12 and 32% (SD). Postprandial increases of acylcarnitines were mostly not significant and not exceeding 10%. Postprandial increase of amino acids was highly significant for most proteinogenic amino acids, but not for all. With the collected data we were able to estimate that mainly decreased levels of methionine and, to a lesser extent, of free carnitine could be “masked” by postprandial increases of the respective metabolites, and could therefore lead to false negative results for the detection of disorders of cobalamin metabolism and carnitine transporter deficiency.

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Abbreviations

Newborn screening:

NBS

Inborn errors of metabolism:

IEM

Dried blood samples:

DBS

Thyroid stimulating hormone:

TSH

17α-hydroxyprogesterone:

17-OHP

Medium-chain triglycerides:

MCT

Standard deviation:

SD

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Authors and Affiliations

  1. University Children`s Hospital, Zürich, Switzerland

    Ralph Fingerhut, Matthias R. Baumgartner, Johannes Häberle, Marianne Rohrbach & Toni Torresani

  2. Metabolic and genetic clinic, UNICAR-Foundation Aldo Castaneda, Pediatric Area, Guatemala City, Guatemala Central America

    Gabriel De Jesus Silva Arevalo, Andrés Weinfeld Ávalos Figueroa, Elena María Dardón Fresse & Olga Leticia Polanco

  3. Swiss Newborn Screening Laboratory, University Children`s Hospital, Steinwiesstr. 75, CH-8032, Zürich, Switzerland

    Ralph Fingerhut

Authors
  1. Ralph Fingerhut
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  2. Gabriel De Jesus Silva Arevalo
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  3. Matthias R. Baumgartner
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  4. Johannes Häberle
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  5. Marianne Rohrbach
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  6. Andrés Weinfeld Ávalos Figueroa
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  7. Elena María Dardón Fresse
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  8. Olga Leticia Polanco
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  9. Toni Torresani
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Corresponding author

Correspondence to Ralph Fingerhut.

Additional information

Communicated by: Georg Hoffmann

Competing interest: None declared.

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Fingerhut, R., De Jesus Silva Arevalo, G., Baumgartner, M.R. et al. Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. J Inherit Metab Dis 33 (Suppl 2), 235–239 (2010). https://doi.org/10.1007/s10545-010-9167-6

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  • DOI: https://doi.org/10.1007/s10545-010-9167-6

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