Abstract
Summary: 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 μmol/liter (n = 5). The amniotic fluid of a fetus with galactosemia had a concentration of 7.96 μmol/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.
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Jakobs, C., Warner, T., Sweetman, L. et al. Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia. Pediatr Res 18, 714–718 (1984). https://doi.org/10.1203/00006450-198408000-00007
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DOI: https://doi.org/10.1203/00006450-198408000-00007
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