Enzyme studies in GM2 gangliosidiosis,and their application in prenatal diagnosis |
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Authors: | Manjeet Kaur Ishwar Chander Verma |
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Institution: | (1) Genetic Unit, WHO Collaborating Center in Genetics, Department of Pediatrics, Old Operation Theratre Building, All India Institute of Medical Sciences, 110 029 New Delhi |
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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. |
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Keywords: | Tay-Sachs disease Sandhoff disease Prenatal diagnosis Hexosaminidase A & B enzymes |
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