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To distinguish patients who have classic galactosemia (at high clinical risk) from those who are compound heterozygotes for a galactosemia mutation and the Duarte variant (at low clinical risk) requires an additional complex GALT isoelectric-focusing procedure to demonstrate the electrophoretic mobility of the variant proteins.
Interestingly, one patient in the study thought to have classic galactosemia was found instead to have measurable residual activity.
57 was shown by DNA mutational analysis to be compound heterozygous for the Duarte mutation (N314D) and a classic galactosemia mutation (Q188R) of the GALT gene, and was excluded from the reference group (Fig.
Classic galactosemia is caused by enzymatic deficiency of galactose-1-phosphate uridyltransferase (GALT) [3] one of the three galactose metabolic enzymes, and is the major inborn error of galactose metabolism.