title: Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.
abstract: A stable isotope dilution assay for galactitol in amniotic fluid has been developed using selected ion monitoring chemical ionization gas chromatography-mass spectrometry of the hexaacetate derivative. [1,1-2H2]Galactitol was synthesized for use as the internal standard. Galactitol is a component of normal amniotic fluid with a mean concentration of 0.70 +/- 0.18 mumol/liter (n = 5). The amniotic fluid of a fetus with galactosemia had a concentration of 7.96 mumol/liter. Mannitol, sorbitol, and inositol were also found to be normal constituents of amniotic fluid. This stable isotope dilution assay is a rapid accurate method for measurement of galactitol in amniotic fluid for prenatal diagnosis of galactosemia.
mesh_terms: D000653:Amniotic Fluid / Q000032:analysis*; D005260:Female; D004376:Galactitol / Q000032:analysis*; D005693:Galactosemias / Q000175:diagnosis*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007294:Inositol / Q000032:analysis; D008353:Mannitol / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013012:Sorbitol / Q000032:analysis; D013402:Sugar Alcohols / Q000032:analysis*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
chemical_list: D013402:Sugar Alcohols; D004376:Galactitol; D008353:Mannitol; D007294:Inositol; D013012:Sorbitol; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase