Abstract

AbstractRapid loss of erythrocyte galactose-1-phosphate uridyl transferase in hemolysates from an infant 26 days after transfusion led to investigation of the possibility of an unstable enzyme or other variant of galactosemia. However, the child was found to have the classic type of galactosemia. The seeming transferase instability was attributable to loss of enzyme activity in hemolysates from blood containing aged, transfused cells, the source of the enzyme. Thus when transfusion is necessary, transferase assay for diagnosis of the enzyme deficiency before transfusion avoids confusion attributable to the enzyme supplied in the transfused cells.