DETECTION OF ARYLSULFATASE A DEFICIENCY IN METACHROMATIC LEUKODYSTROPHY AND THE PRENATAL-DIAGNOSIS OF THE DISEASE

  • 1 January 1980
    • journal article
    • research article
    • Vol. 26  (4) , 461-464
Abstract
Biochemical diagnosis of 2 cases of metachromatic leukodystrophy [ML]/hereditary disease was carried out by means of arylsulfatase A [ASA] deficiency detection in leukocytes of impaired children. Prenatal diagnosis of ML was 1st performed using ASA activity estimation in bioptic samples of chorion at the 8th week of pregnancy. Development of a healthy fetus was diagnosed on the basis of normal enzymatic activity detection in the chorion of a pregnant women who had 2 children with ML. This conclusion was confirmed by fetal tissue analysis in which normal ASA activity was found.