Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease
JS Mayes, JB Scheerer, RN Sifers, ML Donaldson - Clinica Chimica Acta, 1981 - Elsevier
JS Mayes, JB Scheerer, RN Sifers, ML Donaldson
Clinica Chimica Acta, 1981•ElsevierA simple and sensitive fluorometric method has been described for the differential
determination of the activity of lysosomal α-galactosidase A and α-galactosidase B. The
procedure employs 4-methylumbelliferyl-α-D-galactopyranoside as substrate and N-
acetylgalactosamine as an inhibitor of α-galactosidase B, but not of α-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 …
determination of the activity of lysosomal α-galactosidase A and α-galactosidase B. The
procedure employs 4-methylumbelliferyl-α-D-galactopyranoside as substrate and N-
acetylgalactosamine as an inhibitor of α-galactosidase B, but not of α-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 …
Abstract
A simple and sensitive fluorometric method has been described for the differential determination of the activity of lysosomal α-galactosidase A and α-galactosidase B. The procedure employs 4-methylumbelliferyl-α-D-galactopyranoside as substrate and N-acetylgalactosamine as an inhibitor of α-galactosidase B, but not of α-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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