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Measurements of urine galactitol have been used to monitor the adequacy of diet therapy in the treatment of galactosemia. We have devised a gas chromatographic mass spectrometry (GC/MS) isotope-dilution method for the simultaneous quantification of urine galactitol and another alternate pathway product, galactonate.We prepared trimethylsilyl (TMS) derivatives and used d-[UL- 13 C]galactitol...
Background: Because the products of alternate pathways of galactose metabolism, galactitol and galactonate are important in galactosemia, we sought to identify these compounds in red blood cells (RBC). Methods: RBC extracts were trimethylsilylated (TMS) and analyzed by gas chromatography/mass spectrometry (GC/MS). Results: The presence of both galactitol and galactonate was identified in RBC of 15...
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