Research Article| Volume 64, ISSUE 4, P694-705, October 1964

A new method for the detection of galactosemia and its carrier state

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      Early diagnosis of galactosemia is of great importance; yet no adequate screening procedure for its detection and for the detection of its carrier state has been described previously. A dye-linked visual screening system for the estimation of galactose-1-phosphate uridyl transferase has been devised. The end point is the reduction of methylene blue to its leuko form. The test is carried out on 0.050 or 0.100 ml. of whole blood, which is added to a relatively stable reagent mixture, gassed with carbon monoxide, and incubated at 37 ° C. This test has satisfactorily differentiated nonanemic normal, heterozygous, and galactosemic subjects. The effect of dilution of the sample, anemia, various anticoagulants, and intensity of illumination on decolorization time has been described. The cost of the reagents is not high, and the test may be performed with ease. It should therefore prove useful for the detection of galactosemia in newborn infants and in population studies.


      Gal-1-P (galactose-1-phosphate), G-6-P (glucose-6-phosphate), G-1-P (glucose-1-phosphate), UDPG (uridine diphosphoglucose), UDPGal (uridine diphosphogalactose), P-Gal uridyl transferase (galactose-1-phosphate uridyl transferase), TPN (triphosphopyridine nucleotide)
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