Diagnosis of Fabry Disease via Analysis of Family History

  title={Diagnosis of Fabry Disease via Analysis of Family History},
  author={Dawn Alyssia Laney and Paul M. Fernhoff},
  journal={Journal of Genetic Counseling},
Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of α-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease families from other centers were submitted by patients directly. The pedigree review found… CONTINUE READING