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A phosphorylated derivative of galactose that is key in galactose metabolism; accumulates in certain types of galactosemia.
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3] Nonstandard abbreviations: GALT, galactose-1-phosphate uridyltransferase; LCMS/MS, liquid chromatography-tandem mass spectrometry; [[sup.
Newborn (NB) [4] 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.
A patient with classic galactosemia attributable to deficiency of galactose-1-phosphate uridyltransferase showed a normal apoC-III isofocusing profile before dietary treatment.
1) described the accumulation of galactose 1-phosphate (Gal-1-P) [4] in erythrocytes of patients with galactose-1-phosphate uridyltransferase (GALT; EC 2.
Classic galactosemia is caused by enzymatic deficiency of galactose-1-phosphate uridyltransferase (GALT) [3] one of the three galactose metabolic enzymes, and is the major inborn error of galactose metabolism.
e) Galactose-1-phosphate uridyltransferase deficiency; statistically significantly different from the other study groups (P <<0.
An improved procedure for the assay of hemolysate galactose-1phosphate uridyl transferase activity by the use of 14c-labeled galactose-1-phosphate.
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.
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.

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