Open AccessVertical sandwich‐type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper‐borne urine and blood samples in newborn screening
Author(s) -
AlonsoFernandez J.R.,
Carpinteiro M.I.,
Baleato J.,
Fidalgo J.
Publication year - 2010
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.20371
Subject(s) - urine , chromatography , medicine , chemistry
We describe the history and current implementation of an inexpensive thin layer chromatography (TLC) method, vertical sandwich‐type continuous/evaporative TLC with fixed mobile phase volume, that is convenient for detecting and identifying reducing sugars of clinical relevance in the paper‐borne blood and urine samples collected in neonatal screening programmes. This method facilitates screening by providing a considerable degree of standardization of chromatographic results. Among some 555,000 newborns to which it has been applied, it has detected 10 cases of classical galactosaemia, 7 cases of galactokinase deficiency, 2 cases of glucosuria, and 3 cases of transitory neonatal diabetes mellitus; the only false negatives we are aware of were two cases of galacto‐4‐epimerase deficiency detected by tandem mass spectrometry. Screening for sugars in urine has allowed the detection of galactosaemia when the accompanying blood sample was invalid because of transfusion or parenteral feeding. The conclusion is that this inexpensive procedure is very useful for the detection of relevant metabolopathies in circumstances where others fail. J. Clin. Lab. Anal. 24:106–112, 2010. © 2010 Wiley‐Liss, Inc.