Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.

Abstract:

:Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders.

journal_name

Indian J Pediatr

authors

Kaur M,Verma IC

doi

10.1007/BF02755072

keywords:

subject

Has Abstract

pub_date

1995-07-01 00:00:00

pages

485-9

issue

4

eissn

0019-5456

issn

0973-7693

journal_volume

62

pub_type

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