Prenatal diagnosis of GM1 gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography.
Prenatal diagnosis of infantile GM1 gangliosidosis was accomplished by analyzing the galactosyl-oligosaccharides accumulating in amniotic fluid with high-performance liquid chromatography (HPLC) at 14 weeks gestation. The pattern of amniotic oligosaccharides was nearly identical with that in neonatal urine in GM1 gangliosidosis but the concentrations were about one-fiftieth of that in urine, necessitating a highly sensitive assay.
D000653:Amniotic Fluid / Q000032:analysis*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005677:G(M1) Ganglioside; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D009844:Oligosaccharides / Q000032:analysis*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D009844:Oligosaccharides; D005677:G(M1) Ganglioside