Aryl sulphatase isoenzymes of chorionic villi: implications for prenatal diagnosis.
Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH optimum, Km values and linearity with incubation time were found. These differences can be explained by the presence of aryl sulphatase C (ASC), a major component in chorionic villi and placenta. This isoenzyme was shown to have activity towards p-nitrocatechol sulphate (NCS) thereby interfering in the colorimetric assay most often used to detect MLD (Baum et al., 1959)
D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D002824:Chorionic Villi / Q000201:enzymology*; D005188:False Negative Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology
D007527:Isoenzymes; D002553:Cerebroside-Sulfatase