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.


CONCLUSIONS
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.
Chen
Jie
J
Metabolic Research Laboratory, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, 402 ARC, Philadelphia, PA 19104, USA.
Yager
Claire T
CT
Reynolds
Robert A
RA
Segal
Stanton
S
D004912:Erythrocytes / Q000737:chemistry*; D004376:Galactitol / Q000097:blood*; D005693:Galactosemias / Q000097:blood / Q000178:diet therapy; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D013400:Sugar Acids / Q000097:blood*
D013400:Sugar Acids; D004376:Galactitol; C012991:galactonic acid