Voprosy meditsinskoi khimii (ISSN 0042-8809)

Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease

   
Tsvetkova I.V., Bakharev V.A., Kazi Z., Osipova G.N., Rozenfel'd E.L.
PubMed Id: 6109402
Year: 1980 vol: 26  issue:4  pages: 461-464
Abstract: 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.
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Reference: Tsvetkova I.V., Bakharev V.A., Kazi Z., Osipova G.N., Rozenfel'd E.L., Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease, Voprosy meditsinskoi khimii, 1980, vol: 26(4), 461-464.
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