Antenatal diagnosis of Hurler's syndrome.
Hurler's syndrome was diagnosed antenatally in the two consecutive pregnancies of a mother with one affected child. In both instances, diagnosis was based upon a demonstration of the presence of unusual glycosaminoglycan components in the amniotic fluid, of abnormal metabolic activity in cultured amniotic fluid cells, and a deficiency of the lysosomal enzyme alpha-L-iduronidase in these cell homogenates. Bothe pregnancies were terminated before the 24th week and the diagnosis was confirmed by biochemical studies of the fetal livers.
D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology; D005260:Female; D005333:Fetus / Q000032:analysis; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D008099:Liver / Q000032:analysis; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013431:Sulfates / Q000378:metabolism
D006025:Glycosaminoglycans; D013431:Sulfates