Identification of galactitol and galactonate in red blood cells by gas chromatography/mass spectrometry.

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 galactosemic and 13 normal subjects by their mass spectra and chromatographic comparisons with both unlabeled and 13C labeled standards. The levels in RBC of galactosemics appear to be much higher than those of normal subjects.

CONCLUSION

The determination of these compounds in RBC along with galactose-1-phosphate (gal-1-P) in the same procedure provides the potential for their use in better monitoring of diet therapy in galactosemic patients.