Diagnostic Strategy for Females Suspected of Fabry Disease

Fabry disease, an X-linked inherited lysosomal storage disorder, can be overlooked in heterozygous females due to random X-inactivation. In a pilot study, we investigated the combined strategy of measuring the biomarker, Lyso-globotriaosylceramide (Lyso-Gb3/Lyso-GL-3), simultaneously with α-Galactosidase A enzyme activity in over 11,000 females suspected of Fabry disease. Our results show this combined strategy significantly improves the diagnostic detection of Fabry disease in females compared to enzyme testing alone. These results have been published in Clinical Genetics. Read here.

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