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Subsequent investigation determined that low \u03b1\u2010L\u2010iduronidase activity was systemic, also characteristic of the subject's leukocytes and cultured skin fibroblasts. Residual \u03b1\u2010L\u2010iduronidase activity of cultured fibroblasts was found to have reduced catalytic activity (V<jats:sub>max<\/jats:sub>) against the 4\u2010methylumbelliferone substrate, but normal substrate affinity (K<jats:sub>M<\/jats:sub>). Additional studies further characterized the residual enzyme activity in this woman who is an apparent compound heterozygote for Hurler syndrome, and for an allele with low \u03b1\u2010L\u2010iduronidase activity lacking pathologic manifestation. Such low activity \u201cpseudodeficiency\u201d alleles will complicate attempts at prenatal diagnosis of Hurler syndrome and related disorders in rare families.<\/jats:p>","DOI":"10.1002\/ajmg.1320280136","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:58:59Z","timestamp":1118545139000},"page":"233-243","source":"Crossref","is-referenced-by-count":22,"title":["A nonpathologic allele (<i>I<\/i><sup>W<\/sup>) for low \u03b1\u2010L\u2010iduronidase enzyme activity <i>vis\u2010a\u2010vis<\/i> prenatal diagnosis of Hurler syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"Chester B.","family":"Whitley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Krivit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(78)90083-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970060503"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(86)90015-X"},{"key":"e_1_2_1_5_1","unstructured":"BernlohrRW(1973): Introduction. 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