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Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.
MedLine Citation:
PMID:  20652412     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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:
Ralph Fingerhut; Gabriel De Jesus Silva Arevalo; Matthias R Baumgartner; Johannes Häberle; Marianne Rohrbach; Andrés Weinfeld Ávalos Figueroa; Elena María Dardón Fresse; Olga Leticia Polanco; Toni Torresani
Publication Detail:
Type:  Journal Article     Date:  2010-07-21
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-10-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  S235-9     Citation Subset:  IM    
Affiliation:
University Children's Hospital, Zürich, Switzerland. ralph.fingerhut@kispi.uzh.ch
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