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Classic galactosemia is caused by the near total absence of galactose-1-phosphate uridyltransferase (GALT) activity and the resulting accumulation of markedly increased concentrations of galactose and its metabolites.
Lack of the enzyme galactose-1-phosphate uridyltransferase causes an increased amount of galactose in the circulating blood (known as galactosemia).
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/ mass spectrometry.
Newborn (NB)  screening for galactosemia is done primarily to detect clinically devastating galactosemia due to defective function of galactose-1-phosphate uridyltransferase (GALT) (1).
We obtained 21 plasma samples from patients with secondary N-glycosylation alterations [fructosemia due to aldolase B deficiency, n = 2; galactosemia due to galactose-1-phosphate uridyltransferase deficiency, n = 5; chronic alcohol abuse, n = 12; and hemolytic-uremic syndrome (HUS), n = 2].
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase def c iency galactosemia: determination by gas chromatography/mass spectrometry.
12; BIO), galactose-1-phosphate uridyltransferase (EC 2.
A patient with classic galactosemia attributable to deficiency of galactose-1-phosphate uridyltransferase showed a normal apoC-III isofocusing profile before dietary treatment.