Biochemical and genetic studies in two families with Fabry disease.

Abstract

Genetic, biochemical, and enzymatic studies were performed in two families with Fabry disease. The urinary glycolipids and the leukocyte α-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 α-galactosidase and increased urinary excretion of glycolipids. Female carriers who had moderately low levels of α-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 α-galactosidase activity, and the clinical picture in hemizygous male patients with Fabry disease and heterozygous female carriers.