doi: 10.1126/science.167.3922.1268.
Fabry's disease: alpha-galactosidase deficiency
- PMID: 5411915
- DOI: 10.1126/science.167.3922.1268
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Fabry's disease: alpha-galactosidase deficiency
Science.
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Abstract
The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-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 beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.
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