Abstract
THE two chief forms of N-acetyl-β-D-hexosaminidase of human tissues are distinguishable by their electrophoretic behaviour and heat stability and can be separated by ion exchange chromatography1,2. These properties have been used in a differential assay of the forms for diagnostic purposes in cases of lysosomal storage disease. Tay-Sachs' disease is characterized by the lack of the thermolabile hexosaminidase A and by elevated amounts of the more stable hexosaminidase B3 and another form of the enzyme as yet incompletely characterized. In Sandhof's disease4 which resembles Tay-Sachs' disease in the resultant accumulation of cerebral ganglioside GM2, all forms of the enzyme are at a very low concentration. The A and B forms of the enzyme are closely related at a molecular level and antisera raised to either enzyme separated from human liver5 or from human placenta6 cross-react with the other enzymic form.
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ROBINSON, D., CARROLL, M. & STIRLING, J. Identification of a Possible Subunit of Hexosaminidase A and B. Nature 243, 415–416 (1973). https://doi.org/10.1038/243415a0
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DOI: https://doi.org/10.1038/243415a0
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