[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy].

Fabry disease results from deficient activity of the enzyme alpha-galactosidase A. Affected (hemizygous) males often show the complete spectrum of symptoms and signs and have a deficient alpha-galactosidase A activity. Occasionally milder oligosymptomatic courses are observed, when residual enzyme activity is present. In contrast to previous belief, heterozygous females may be affected in the same manner as hemizygotes and may also have a significantly reduced enzyme activity.