Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.

Abstract

Two major metabolic disorders are associated with galactose metabolism: galactokinase (ATP : D-galactose1-phosphotransferase, EC 2.7.1.6) deficiency and galactosemia (1) secondary to a deficiency in galactose-i-phosphate uridyl transferase (UTP: a-D-galactose-i-phosphate uridyltransferase, EC 2.7.7.10) activity. One case reported in 1972 (2) described a… (More)

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