Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia

Pediatr Res. 1984 Aug;18(8):714-8. doi: 10.1203/00006450-198408000-00007.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amniotic Fluid / analysis*
  • Female
  • Galactitol / analysis*
  • Galactosemias / diagnosis*
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Inositol / analysis
  • Mannitol / analysis
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Sorbitol / analysis
  • Sugar Alcohols / analysis*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency


  • Sugar Alcohols
  • Galactitol
  • Mannitol
  • Inositol
  • Sorbitol
  • UTP-Hexose-1-Phosphate Uridylyltransferase