著者

Yoshinao Wada Machiko Kadoya Nobuhiko Okamoto

出版者

The Mass Spectrometry Society of Japan

雑誌

Mass Spectrometry (ISSN:2187137X)

巻号頁・発行日

vol.11, no.1, pp.A0113, 2022-12-28 (Released:2022-12-28)

参考文献数

21

被引用文献数

1

---

Dried blood spot (DBS) is the standard specimen for the newborn screening of inborn errors of metabolism (IEM) by tandem mass spectrometry. Availability of DBS for the mass spectrometric analysis of the diagnostic marker proteins, transferrin (Tf) and apolipoprotein CIII (apoCIII), of congenital disorders of glycosylation (CDG) was examined. Recovery of Tf from DBS was only slightly reduced compared with fresh serum. Although oxidation of the core polypeptides was observed, glycans of Tf and apoCIII were unaffected by storage of DBS in the ambient environment for at least 1 month. The combination of DBS and the triple quadrupole mass spectrometer used for IEM screening was sufficient to characterize the aberrant glycoprofiles of Tf and apoCIII in CDG. DBS or dried serum spot on filter paper can reduce the cost of sample transportation and potentially promote mass spectrometric screening of CDG.