what is GMPPA?

GMPPA is a gene that regulates the addition of sugar chains onto parts of our cells. Without working GMPPA, cells get overloaded with sugars and become sick.

Imagine you are baking a cake. You need just the right amount of sugar to get the cake to rise, but if you add too much, it will collapse. This is what happens with defective GMPPA, and explains why the effects are so widespread and can alter almost every system in the body.

Life with GMPPA

The road is hard for kids with GMPPA. Seizures, achalasia of the esophagus (food and water can’t enter the stomach), dry eyes, intellectual disability, weak muscles, vision problems, and hearing issues are among some of the ailments this disease can cause. Many of these symptoms worsen with time.

Life expectancy is unknown, but a cure is POSSIBLE.