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

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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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Authors and Affiliations

  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

    Manjeet Kaur & Ishwar Chander Verma (Professor of Pediatrics)

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  1. Manjeet Kaur
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  2. Ishwar Chander Verma
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Kaur, M., Verma, I.C. Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis. Indian J Pediatr 62, 485–489 (1995). https://doi.org/10.1007/BF02755072

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