Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.
- Published Article
Clinica Chimica Acta
- Publication Date
May 05, 1981
A simple and sensitive fluorometric method has been described for the differential determination of the activity of lysosomal alpha-galactosidase A and alpha-galactosidase B. The procedure employs 4-methylumbelliferyl-alpha-D-galactopyranoside as substrate and N-acetylgalactosamine as an inhibitor of alpha-galactosidase B, but not of alpha-galactosidase A to differentiate the two activities. This method was shown to be applicable in the differentiation of the two enzyme activities in human tissues and in the diagnosis of the heterozygous and hemizygous genotypes for Fabry's disease in cultured skin fibroblasts.
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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/6263521