What is Fabry disease?
Fabry's disease is a hereditary metabolic disorder caused by a defective gene on the X chromosome. This gene controls the enzyme alpha-galactosidase A, which is missing or only functions to a limited extent in those affected.

Inheritance:

• Males with the defective gene are always affected.

• Women can pass on the gene - about half of their children inherit the disease or become carriers.

• Men pass on the defective gene only to their daughters, not to their sons.

Diagnosis:
The disease can now be reliably diagnosed using biochemical and genetic tests - even before birth.
After a diagnosis, family members should also be examined to enable early treatment.

Frequency:
Morbus Fabry is very rare - it affects around 1 in 40,000 to 100,000 newborns. In Switzerland, there are around 150 people affected.