Fabry disease results from deficient activity of alpha-galactosidase A (a-GAL A).
Bless you. What?
That’s an enzyme which breaks down complex sugar-lipid molecules called glycolipids. When the body can’t break them down, they build up elsewhere. In Fabry disaese, it can damage the heart and kidneys.
This categorizes Fabry disease as a lysosomal storage disorder.
Because its gene is located on the X chromosome, it’s more prevalent in males. Females can either be affected just as severely as their male counterparts, or conversely, be completely asymptomatic.
There are two types of Fabry disease: Type 1, or “classic,” and type 2, which can occur later in life. Both types, however, can lead to end stage renal failure and prove fatal.
People with both types suffer from:
- painful hands and feet,
- gastrointestinal problems,
- skin discoloration,
- and corneal dystrophy.
As the patient ages, heart complications are common because of the failure of blood capillaries to carry adequately oxygenated blood.
But fear not!
Pharma company AvroBio, based in Cambridge, Massachusetts, is doing something about this rare inherited disease. They recently spent $25 million dollars to fund genetic research. Geoff MacKay, CEO and founder, is confident the money will help speed research into this disease that affects one in 40,000 live births.
The end goal?
Better treatments, and hopefully a cure.
