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Comparison of the substrate 4‐Methylumbelliferyl‐α‐ l ‐iduronide with phenyl‐α‐ l ‐iduronide for the diagnosis of Hurler's disease in cultured cells
Author(s) -
Butterworth J.,
Broadhead D. M.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801722
Subject(s) - enzyme , distilled water , substrate (aquarium) , sodium formate , sodium , biochemistry , chemistry , derivative (finance) , chromatography , microbiology and biotechnology , biology , organic chemistry , ecology , financial economics , economics
4‐Methylumbelliferyl‐α‐ l ‐iduronide provided a more sensitive method than phenyl‐α‐ l ‐iduronide for the estimation of α‐ l ‐iduronidase in cultured cells and could be used to diagnose Hurler's disease. The 4‐methylumbelliferyl derivative was no more useful than the phenyl derivative for the detection of heterozygotes. All ten lysosomal enzymes tested could be used as reference enzymes when cell extracts were prepared by freeze/thawing in distilled water, but only N ‐acetyl‐β‐ d ‐glucosaminidase could be used for extracts prepared by freeze/thawing in formate buffer pH 3.5 containing 150 mmol/l sodium chloride.