title: Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
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.
authors.affiliation: University Children's Hospital, Zürich, Switzerland. ralph.fingerhut@kispi.uzh.ch
authors.forename: Ralph
authors.initials: R
authors.lastname: Fingerhut
authors.forename: Gabriel
authors.initials: G
authors.lastname: De Jesus Silva Arevalo
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Marianne
authors.initials: M
authors.lastname: Rohrbach
authors.forename: Andrés Weinfeld Ávalos
authors.initials: AW
authors.lastname: Figueroa
authors.forename: Elena María Dardón
authors.initials: EM
authors.lastname: Fresse
authors.forename: Olga Leticia
authors.initials: OL
authors.lastname: Polanco
authors.forename: Toni
authors.initials: T
authors.lastname: Torresani
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D001800:Blood Specimen Collection; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D005188:False Negative Reactions; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D008875:Middle Aged; D015997:Neonatal Screening / Q000379:methods; D019518:Postprandial Period; D011237:Predictive Value of Tests; D015854:Up-Regulation; D055815:Young Adult
chemical_list: D000596:Amino Acids; D015415:Biomarkers; C116917:acylcarnitine; D002331:Carnitine