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Although mixed leuk ocytes have proved satisfactory in Tay\u2010Sachs screening programs, purified preparations of granulocytes or lymphocytes will allow better discrimination in most situations. Enzymes are assayed relative to some other reference parameter which must be a constant or highly correlated with test enzyme activity. In the two mass screening programs in operation, \u03b2\u2010hexosaminidase A and \u03b1\u2010mannosidase have both been assayed relative to total \u03b2\u2010hexosaminidase activity. Carrier detection is particularly important in X\u2010linked diseases. The techniques used mostly involve hair roots or fibroblasts and depend on random inactivation of the X chromosome. In the mucolipid oses II and III, in which there are a number of deficient enzymes in cells, carriers may be identified on the basis of the ratio of \u03b2\u2010hexosaminidase I<jats:sub>1<\/jats:sub> and I<jats:sub>2<\/jats:sub> to total hexosaminidase.<\/jats:p>","DOI":"10.1002\/ajmg.1320040313","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:32:43Z","timestamp":1118511163000},"page":"293-307","source":"Crossref","is-referenced-by-count":11,"title":["Inborn errors of lysosomal catabolism\u2014principles of heterozygote detection"],"prefix":"10.1002","volume":"4","author":[{"given":"R. D.","family":"Jolly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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