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Clinical Chemistry 21: 334-342, 1975;
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Clinical Chemistry, Vol 21, 334-342, Copyright © 1975 by the American Association for Clinical Chemistry

Automated Differentiation and Measurement of Hexosaminidase Isoenzymes in Biological Fluids and Its Application to Preand Postnatal Detection of Tay—Sachs Disease

Abraham Salfer 1, George W. Parkhurst 1, and June Amoroso 1

1 Biochemistry Department, Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Brooklyn, N. Y. 11203.

Three hexosaminidase (EC 3.2.1.52) isoenzymes other than isoenzymes A and B in body fluids have been separated by chromatography on diethylaminoethyl cellulose. By inserting a microcolumn into a continuous-flow system for automated, fluorometric hexosaminidase analysis [Clin. Chem. 20, 538 (1974)], samples eluted with buffered-NaCl gradients can be continuously monitored. Isoenzyme patterns were obtained for fluids from normal individuals, pregnant women, Tay—Sachs disease carriers, pregnant carriers, and patients with the disease. These chromatograms revealed a hitherto undetected isoenzyme (I3) in serum. An increase in serum hexosaminidase isoenzyme I2(or P) during pregnancy is characteristic of a carrier pattern. Our data show that serum and urinary hexosaminidase isoenzyme patterns may be used in addition to leukocyte analysis, to distinguish a pregnant carrier from a normal pregnant woman. All fluids tested demonstrated no isoenzyme A activity and above-normal activity of isoenzymes B and (or) I2 in homozygotes. Urine is preferred fluid for postnatal and amniotic fluid for the prenatal diagnosis of the disease. Quantitative data on isoenzyme A obtained with the procedure described here agree well with those obtained by heatand pH-inactivation methods.


Key Words: chromatography, in microcolumns, on DEAE-cellulose • AutoAnalyzer • continuous-flow analysis • screening • inherited disorders • lipid storage diseases • normal values • urine, serum, leukocytes, amniotic fluid and cells

Submitted on October 31, 1974
Accepted on December 2, 1974






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Copyright © 1975 by the American Association for Clinical Chemistry.