We describe a 55-year-old man with the cardiac variant of Fabry's disease who had residual α-galactosidase A activity as the result of a missense mutation encoding a substitution of arginine for ...

Galactosemia (G) is due to either partial or complete deficiency of the enzyme galactose-1-phosphate uridyl transferase (Ts). In females with G, there is a high incidence of premature ovarian failure.

In Saccharomyces cerevisiae, utilization of galactose requires four inducible enzyme activities. Three of these activities (galactose-1-phosphate uridyl transferase, EC 2.7.7.10; uridine ...