Pompe disease in dogs and in humans share the same genetic cause

Abstract

Pompe disease is a rare inherited metabolic disease which leads to an impairment metabolism of the storage sugar – glycogen. Interestingly, the same type of disease can be found in another mammals as well, e.g. in dogs.

While the genetic defect in humans has been known for some time, the genetic defect of this disease in dogs was discovered right now.

Keywords

• Pompe disease
• inherited metabolic diseases
• dogs