Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
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.
Fingerhut
Ralph
R
University Children's Hospital, Zürich, Switzerland. ralph.fingerhut@kispi.uzh.ch
De Jesus Silva Arevalo
Gabriel
G
Baumgartner
Matthias R
MR
Häberle
Johannes
J
Rohrbach
Marianne
M
Figueroa
Andrés Weinfeld Ávalos
AW
Fresse
Elena María Dardón
EM
Polanco
Olga Leticia
OL
Torresani
Toni
T
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
D000596:Amino Acids; D015415:Biomarkers; C116917:acylcarnitine; D002331:Carnitine