Fabry Disease
OMIM number: 301500
Comments closing date: 08/06/2026
Fabry disease is an inherited genetic condition caused by a change in a gene called GLA. This
condition can be passed through families and affects how the body breaks down certain fatty
substances, which can build up in cells and cause health problems over time. When the genetic
change is present in males who are affected by the condition, all daughters would inherit the
mutation and be known as carriers. Female carriers may not show symptoms or may have milder features, but they can still pass the condition on to their children. Preimplantation genetic diagnosis is being requested in the form of sex selection for male patients affected with Fabry disease. This is because female embryos would be expected to be carriers of the condition, and the aim is therefore to transfer only male embryos that are unaffected and do not carry the familial genetic change.
