Fabry disease

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females

B. E. Gutiérrez-Amavizca, Orozco-Castellanos, R., Padilla-Gutiérrez, J. R., Valle, Y., and Figuera, L. E., Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females, vol. 13, pp. 6752-6758, 2014.

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations.

Demographic characterization of Brazilian patients enrolled in the Fabry Registry

A. M. Martins, Kyosen, S. O., Garrote, J., Marques, F. M. V., Guilhem, J. G., Macedo, E., J. Neto, S., and Ura, S., Demographic characterization of Brazilian patients enrolled in the Fabry Registry, vol. 12, pp. 136-142, 2013.

Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. The Fabry Registry is an ongoing observational database that compiles clinical data on patients with FD. We analyzed the Fabry Registry data of patients enrolled in Brazil to characterize the demographic and baseline clinical characteristics of this patient population. As of October 2010, 126 Brazilian patients were enrolled in the Registry (61 males, 65 females). The median age at onset of symptoms in males was 9.8 years, compared to 11.4 years in females.

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