The authors declare that they have no conflict of interest.
Mutation identification of Fabry disease in families with other lysosomal storage disorders
Article first published online: 28 DEC 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 3, pages 281–285, September 2013
How to Cite
Mutation identification of Fabry disease in families with other lysosomal storage disorders., , , , , , , , , .
- Issue published online: 12 AUG 2013
- Article first published online: 28 DEC 2012
- Accepted manuscript online: 4 DEC 2012 11:50AM EST
- Manuscript Revised: 29 NOV 2012
- Manuscript Accepted: 29 NOV 2012
- Manuscript Received: 4 JUL 2012
- GLA mutation;
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom FD was incidentally diagnosed in two females. In both families, the risk for other lysosomal disorders was known from other members affected by fucosidosis or mucopolysaccharidosis I Hurler/Scheie. Some subjects were simultaneously heterozygous for Fabry and the other lysosomal deficiency. Our study shows that the risk for more than one LSDs can occur in a family pedigree. The diagnosis of Fabry in female probands represents a diagnostic challenge, as symptoms and signs can be variably present because of the random X-chromosome inactivation.