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Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
Author(s) -
Fingerhut Ralph,
De Jesus Silva Arevalo Gabriel,
Baumgartner Matthias R.,
Häberle Johannes,
Rohrbach Marianne,
Figueroa Andrés Weinfeld Ávalos,
Fresse Elena María Dardón,
Polanco Olga Leticia,
Torresani Toni
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9167-6
Subject(s) - postprandial , carnitine , amino acid , metabolite , medicine , endocrinology , methionine , acetylcarnitine , biology , chemistry , biochemistry , insulin
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.