Prenatal tests for Sanfilippo disease type B in four pregnancies.
We report the prenatal diagnosis of two fetuses with Sanfilippo disease type B. In both pregnancies there were excessive amounts of heparan sulphate in amniotic fluid and the activity of N-acetyl-alpha-D-glucosaminidase was undetectable in cultured amniotic fluid cells. The predictions were confirmed by enzyme assay of cultured skin fibroblasts from the aborted fetus or the affected infant. The disorder was excluded for two other pregnancies at risk and the predictions are considered to be correct because of the normal progress of the healthy children.
D000118:Acetylglucosaminidase / Q000032:analysis; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000032:analysis; D006497:Heparan Sulfate / Q000032:analysis; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000118:Acetylglucosaminidase; D006025:Glycosaminoglycans; D006497:Heparan Sulfate