Fabry's Disease: Alpha-Galactosidase Deficiency

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Science  27 Feb 1970:
Vol. 167, Issue 3922, pp. 1268-1269
DOI: 10.1126/science.167.3922.1268


The leukocytes of male patients with Fabry's disease are deficient in α-galactosidase. The α-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of β-galactosidase, β-acetylgalactosaminidase, and β-acetylglucosaminidase in the leukocytes of affected individuals are normal.

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