Abstract
The protocol evaluated in this paper employs an enzymatic assay of galactose metabolites, thin layer chromatography, and an assay of galactose-1-phosphate uridyl transferase on a single sample of blood collected routinely for newborn screening. Its effectiveness was tested by a retrospective study of known galactosaemic blood samples, and also by a prospective study of 207 000 newborn samples from which 6 infants with severe transferase deficient galactosaemia and 2 infants with red cell epimerase deficiency were identified. The detection rate for severe transferase deficiency in the newborn population was 1:35 000. Advantages include low false positive rate, definitive diagnosis within 6 hours of sample receipt, and the use of technically simple and robust procedures. This protocol overcomes the difficulties encountered with previously described procedures.
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Bowling, F.G., Brown, A.R.D. Development of a protocol for newborn screening for disorders of the galactose metabolic pathway. J Inherit Metab Dis 9, 99–104 (1986). https://doi.org/10.1007/BF01813911
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DOI: https://doi.org/10.1007/BF01813911