References in periodicals archive ?
When NB screening includes Gal quantification, the vast majority of reported galactosemias in NBs are nonclassic, however, and these NBs rarely require urgent treatment.
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
4] Nonstandard abbreviations: NB, newborn; GALT, galactose-1-phosphate uridyltransferase; Gal, galactose; GALK, galactokinase; GALE, galactose-4-epimerase; D/G galactosemia, Duarte/classic galactosemia; Gal-1-P, galactose 1-phosphate; PA DOH, Pennsylvania Department of Health.
A GALT value [less than or equal to] 32 [micro]mol/L is typical in GALT-deficient galactosemia, whereas GALT activity values of 41-120 [micro]mol/L are common with clinically benign mutations.
Epimerase-deficiency galactosemia is not a binary condition.
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.