Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy

Abstract

Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in α-galactosidase A (α-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had α-Gal A activity in leukocytes that was remarkably below the limit of controls. DNA analysis of the α-Gal A gene revealed a novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution. As a result she was confirmed as a classic Fabry heterozygote. Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease. Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy. Therefore, it is necessary to measure α-Gal A activity in all suspected cases and to analyze genetic abnormalities in heterozygotes.