Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
The diagnosis of 6 known Tay-Sachs cases was confirmed by isoelectric focusing of the cell-free amniotic fluid. The presence of an additional--hitherto unknown--heatstable, acid hexosaminidase X in normal and pathological amniotic fluids must be taken into account especially when the heat denaturation method of detecting Tay-Sachs disease is applied. Hexosaminidase X shows some properties similar to those of hexosaminidase B.
D000653:Amniotic Fluid / Q000032:analysis* / Q000201:enzymology; D005260:Female; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007525:Isoelectric Focusing; D008722:Methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013661:Tay-Sachs Disease / Q000175:diagnosis*
D006596:Hexosaminidases