| The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts. | |
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MedLine Citation:
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PMID: 6797759 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The activities of alpha-L-iduronidase (EC 3.2.1.76) were measured, by a microassay with phenyl-alpha-L-iduronide as the substrate, in cultured fibroblasts from patients with the Hurler syndrome (MPS IH) or the Scheie syndrome (MPS IS) and from heterozygotes.l The iduronidase activities in the cells from 44 MPS IH and 7 MPS IS patients were all strongly reduced and distinct from the activities in heterozygotes and normal controls. In a group of 24 obligate heterozygotes for MPS IH, 23 could be classified as heterozygotes when the average iduronidase activities of two independent assays were considered. The use of a standard enzyme preparation as a reference in the assays further improved the identification of heterozygosity. The testing of possible heterozygotes (relatives of patients) and their partners may be a valuable contribution in genetic counselling. |
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Authors:
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W J Kleijer; G M Hensing-Wolffers; E J Thompson; M F Niermeijer |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinica chimica acta; international journal of clinical chemistry Volume: 116 ISSN: 0009-8981 ISO Abbreviation: Clin. Chim. Acta Publication Date: 1981 Oct |
Date Detail:
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Created Date: 1982-03-13 Completed Date: 1982-03-13 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 1302422 Medline TA: Clin Chim Acta Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 47-54 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Fibroblasts
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analysis Glycoside Hydrolases / analysis* Heterozygote Detection* Humans Iduronidase / analysis* Mucopolysaccharidosis I / diagnosis*, enzymology |
| Chemical | |
Reg. No./Substance:
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EC 3.2.1.-/Glycoside Hydrolases; EC 3.2.1.76/Iduronidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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