Fabry's disease: alpha-galactosidase deficiency
JA Kint - Science, 1970 - science.org
JA Kint
Science, 1970•science.orgThe 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.
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.
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.
AAAS