BIOGENESIS OF GALACTOSE: EVIDENCE IN GALACTOSEMIC INFANTS

Abstract

In several galactosemic infants (hereditary deficiency of galactose-l-phosphate uridyltransferase) high levels of red cell galactose-l-phosphate have persisted for months despite rigid exclusion of galactose from diet. In vitro conversion of UDP-galactose to galactose-l-phosphate by erythrocyte lysates had been demonstrated earlier. It now is certain that such conversion is due to the pyrophosphorolysis of UDP-galactose, This reaction is usually thought of as providing a bypass for the transferase reaction in the conversion of galactose to glucose. It is now conceivable that in the young galactosemic under treatment, this bypass reaction is used in the reverse direction i.e. not for the breakdown of galactose-l-phosphate but for its buildup from glucose. Whether this will also take place in tissues other than the red cell i.e. in the central nervous system is unknown but must be considered since self-intoxication of these patients would ensue.

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