Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease.
Activities and multiple forms of alpha-D-galactosidase of human kidney and liver in the normal and in Fabry's disease were comparatively studied using alpha-D-galactoside and alpha-D-fucoside as substrates. By isoelectric focusing alpha-D-galactosidase was shown to exist in multiple forms, one of which possesses both alpha-D-galactosidase and alpha-D-fucosidase activity. In Fabry's disease, caused by a deficiency of alpha-D-galactosidase A, we found only one form of alpha-D-galactosidase, which corresponded to form B (alpha-N-acetylgalactosaminidase) and was also able to split alpha-D-fucoside. Thus, in Fabry's disease the alpha-D-fucosidase profile was virtually unchanged, as compared with the normal. The results obtained indicate that the alpha-D-fucosidase activity is due to the action of alpha-D-galactosidase B, encoded for by an autosomal gene of chromosome 22. We suppose these data could be confirmed by revealing the significant reduction of the alpha-D-fucosidase activity in patients with alpha-N-acetylgalactosaminidase deficiency.
Beyer
E
E
Institute of Biological and Medical Chemistry, U.S.S.R. Academy of Medical Sciences, Moscow.
Schono
N
N
Kozlova
I
I
Wiederschain
G
G
D055598:Chemical Phenomena; D002621:Chemistry; D000795:Fabry Disease / Q000201:enzymology*; D005696:Galactosidases / Q000378:metabolism*; D006027:Glycosides; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D007525:Isoelectric Focusing; D007668:Kidney / Q000187:drug effects / Q000378:metabolism; D008099:Liver / Q000187:drug effects / Q000201:enzymology; D013154:Spleen / Q000187:drug effects / Q000378:metabolism; D000519:alpha-Galactosidase / Q000378:metabolism*; D005644:alpha-L-Fucosidase / Q000378:metabolism*
C030561:4-methylumbelliferyl glycosides; D006027:Glycosides; D006923:Hymecromone; D005696:Galactosidases; D000519:alpha-Galactosidase; D005644:alpha-L-Fucosidase