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Biochemical and Genetic Studies in Two Families With Fabry Disease
Ikuo Goto, MD;
Takeshi Tabira, MD;
Akiko Nawa, MD;
Toru Kurokawa, MD;
Yoshigoro Kuroiwa, MD
Arch Neurol. 1974;31(1):45-50.
Abstract
Genetic, biochemical, and enzymatic studies were performed in two families with Fabry disease. The urinary glycolipids and the leukocyte  -galactosidase, β-galactosidase, N-acetyl-β-glucosaminidase, and N-acetyl-β-galactosaminidase activities were determined in members of these families. Seven male members of both families had the typical symptoms of classic Fabry disease with abnormally low levels of -galactosidase and increased urinary excretion of glycolipids. Female carriers who had moderately low levels of -galactosidase with excessive urinary glycolipid excretion showed typical clinical symptoms except for one subject. Our results suggest that there is a correlation between the urinary glycolipid excretion, the level of leukocyte -galactosidase activity, and the clinical picture in hemizygous male patients with Fabry disease and heterozygous female carriers.
Author Affiliations
Fukuoka, Japan
From the Department of Neurology, Neurological Institute (Drs. Goto, Tabira, and Kuroiwa), and the Department of Pediatrics (Drs. Nawa and Kurokawa), Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Footnotes
Accepted for publication Nov 21, 1973.
Reprint requests to Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Higashi-ku Fukuoka City, 812, Japan (Dr. Goto).
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