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Abstract
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.
Abbreviations:
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)To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
July 16,
1964
Received:
May 25,
1964
Footnotes
☆This work was supported in part by funds donated by Harry and Lillian Blackman.
☆☆An abstract of a portion of this work has been published.
Identification
Copyright
© 1964 Published by Elsevier Inc.
