Results about: Pompe disease
The group directed by Prof. Guinovart is involved in several projects on glycogen metabolism and its dysfunctions in diabetes and Lafora disease.
The Asociación Española de Enfermos de Glucogenosis (AEEG) is to mark International Pompe day by organising activities throughout Spain to raise awareness of this disease and by launching a fundraising campaign to co-fund a research project at IRB Barcelona.
Pompe disease is a rare condition that causes progressive muscle degeneration. It causes death in infants under one year of age and severe muscle weakness in children and adults.
It is estimated that between 5,000 and 10,000 people worldwide suffer from this disease, which has an incidence of 1 case per 40,000 live births. In Spain, there are roughly 400 people with this condition, only 100 diagnosed.
A deficiency in a protein causes the deterioration of muscle cells. However, research into the role of motor neurons in this disease is required.