the
ki ney
citizen
Kidney Patients
Seek Information
about Fabry
Disease
hands and feet, lack of sweating, fatigue, diarrhea, and
eventually damaged organs such as the kidneys, heart,
and the brain.
By Dawn Jacob Laney
MS, CGC, CCRC, Instructor/Genetic Counselor at Emory University and
Kathi Niccum, EdD, Education Director, DPC Education Center
What is Fabry Disease?
Fabry disease is an inherited, rare disorder that is
caused when a person’s GLA gene has changes or
mutations that keep it from working correctly. This
non-working GLA gene is unable to produce enough
of an important enzyme called alpha-galactosidase A
whose job it is to break down a fatty substance called
globotriaosylceramide or GL3. The GL3 builds up in
cells all over the body, in particular in the walls of
blood vessels which leads to burning nerve pain in the
How is it inherited?
The gene that causes Fabry disease is on the X
chromosome. Males have one X and one Y chromosome
and females have two X chromosomes. When a father
has Fabry disease, his only X chromosome has the
non-working GLA gene, so all of his female offsprings
will inherit the non-working GLA gene and will have
Fabry disease. Since Fabry disease only involves the X
chromosome and the only way to have a son is for the
father to pass on his Y chromosome, male offsprings
of a man with Fabry disease will not inherit the nonworking GLA gene and will not have Fabry disease.
When a mother has Fabry disease, she has a 50%
chance with each pregnancy of passing on the nonworking GLA gene to either a son or a daughter,
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