[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease].
Biochemical diagnosis of two cases of metachromatic leukodystrophy /hereditary disease was carried out by means of detection of arylsulfatase A deficiency in leukocytes of impaired children. Prenatal diagnosis of metachromatic leukodystrophy was first performed using estimation of the arylsulfatase A activity in bioptic samples of chorion in 8 week pregnancy. Development of the healthy fetus was diagnosed on the basis of detection of the normal enzymatic activity in the chorion of pregnant woman which had earlier two children with metachromatic leukodystrophy. This conclusion was confirmed by analysis of the fetal tissues in which the normal arylsulfatase A activity was found.
D001706:Biopsy; D001921:Brain / Q000201:enzymology; D002553:Cerebroside-Sulfatase / Q000032:analysis*; D002675:Child, Preschool; D002823:Chorion / Q000201:enzymology; D004796:Clinical Enzyme Tests; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007668:Kidney / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics; D008099:Liver / Q000201:enzymology; D008297:Male; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000032:analysis*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase
Vyiavlenie nedostatochnosti arilsul'fatazy A p ri metakhromaticheskoĭ leĭkodistrofii i prenatal'nyĭ diagnoz zabolevaniia.