Genetic Diseases/Rare Disorders

Fabry disease
Fabry disease is an inherited lysosomal storage disorder caused by a malfunctioning gene in the body. Because of this in-born error in the body's genetic makeup, an essential enzyme known as a-galactosidase A, or a-GAL is either missing or deficient in the amount necessary to break down specific fatty substances.

For more information on diagnosis and treatment, click here.

Polycystic Kidney Disease
Polycystic Kidney Disease is the most common genetic, life threatening disease affecting more than 600,000 Americans and an estimated 12.5 million people worldwide - regardless of sex, age, race or ethnic origin. In fact, PKD affects more people than cystic fibrosis, muscular dystrophy, hemophilia, Down syndrome and sickle cell anemia ‹ combined.

To download HALT Progression in PKD: A Randomized Clinical Trial referral letter, click here.
To download HALT PKD brochure click here.
For more information on diagnosis and treatment, click here.