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. 2010;24(2):106-12.
doi: 10.1002/jcla.20371.

Vertical 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

J R Alonso-Fernandez  1 , M I Carpinteiro, J Baleato, J Fidalgo
Affiliations

Vertical 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

J R Alonso-Fernandez et al. J Clin Lab Anal. 2010.

Abstract

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.

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References

    1. Berry HK, Sutherland B, Guest GM, Warkainy J. Simple method for detection of phenylketonuria. JAMA 1958;167:2189–2190. - PubMed
    1. Berry HK. Procedures for testing urine specimens dried on filter Paper. Clin Chem 1959;5:603–608. - PubMed
    1. Das AK, Sakker IB. Action of amines on quinolinic acid. J Ind Chem Soc 1934;11:707–710.
    1. Woolf LI. Large scale screening for metabolic disease in the newborn in Great Britain In: Anderson JA, Swaiman KF, editors. Phenylketonuria and Allied Metabolic Diseases. Washington: Children's Bureau; 1967. p 50–61.
    1. Alonso‐Fernández JR, Castiñeiras DE, Parrado C, Fraga JM, Peña J. Galactose newborn screening: test for reducing sugars in urine samples impregnated on paper In: Therrell BL, Jr, editor. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division) 1987. p 233–238.