NEW RADIOISOTOPIC METHOD FOR ESTIMATION OF GALACTOSE-l-PHOSPHATE IN GALACTOSEMIA

Simultaneous Quantitative Galactose-1-Phosphate and Blood for the Diagnosis of Estimation of Galactose in Galactosemia

FUJIMURA, Y., KAWAMURA, M. and NARUSE, H. Simultaneous Quantitative Estimation of Galactose-1-Phosphate and Galactovve in Blood for the Diagnosis of Galactosemia. Tohoku J. exp. Med., 1982, 137 (3), 28°-295 A new microfluorometrical simultaneous assay method of galactose-l-phosphate and galactose in blood discs was devised by use of alkaline phosphatase and fl-galactose dehydrogenase. Our metho...

A new method of blood galactose estimation for mass screening of galactosemia.

A new method for quantitative determination of galactose in blood by fluorescence of NADH was described. The assay system consisted of beta-galactose dehydrogenase, NAD, buffer and a denatured blood disc (3 mm diameter), and the reaction was carried out for 1 hr at 37 degrees C. Denaturation of hemoglobin was accomplished by exposing the blood disc to a vapor of formic acid in an air-tight cont...

Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate.

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.

BACKGROUND Duarte galactosemia (DG) is frequently detected in newborn-screening programs. DG patients do not manifest the symptoms of classic galactosemia, but whether they require dietary galactose restriction is controversial. We sought to assess the relationships of selected galactose metabolites (plasma galactose, plasma galactitol, erythrocyte (RBC) galactitol, RBC galactonate, and urine g...

Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia.

Congenital galactosemia is an inborn error of metabolism characterized by an inability to metabolize galactose. It has been established1-3) that the disease is due to congenital absence or deficiency in the enzyme, galactose-l-phosphate uridyl transferase, which catalyzes the conversion of galactose-l-phosphate (Gal1-P) to glucosel-phosphate. This enzyme defect may lead to an accumulation of Ga...