title: Pseudodeficiency of alpha-galactosidase A.
abstract: Apparent deficiency of alpha-galactosidase A was observed in a 51-year-old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both synthetic and natural substrates. This pseudodeficiency was transmitted in his family by classical X-linked inheritance. His wife showed enzyme activity in the normal range, two daughters were heterozygotes for this mutation as demonstrated by hair root assay, and three sons showed normal alpha-galactosidase activity. Kinetic studies in cultured skin fibroblasts indicated a five-fold increase in the apparent Km and a greater heat stability of the residual alpha-galactosidase activity when compared to controls. These data indicate that the residual enzyme activity in this mutation behaves similarly to that observed in Fabry disease patients but does not cause any clinical abnormalities.
mesh_terms: D000293:Adolescent; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014960:X Chromosome; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase