What is Pompe disease?
Pompe disease is a disorder of the metabolism first described in 1932 by Dr J C Pompe. In this case it means that there is a problem with one of the stages in the normal processing of food to make energy.
It is a rare neuromuscular, genetic condition that occurs in babies, children and adults who inherit a defective gene from each of their parents. Though the genetic defect that causes GSD2 is present at birth, symptoms may appear at any time from birth to adulthood.
Pompe disease is an ultra-orphan disease that is currently diagnosed in less than 200 people in the United Kingdom.
Pompe disease (glycogen storage type II disease) is caused by a deficiency of acid alphaglucosidase (GAA) enzyme activity, resulting in lysosomal glycogen accumulation in muscles and irreversible muscle damage.[1-3]
Hidden, undiagnosed populations
Incidence estimates for Pompe disease range from 1 in 33,333 to 1 in 138,000 [1-2]. However, it is difficult to know exactly how many people are actually affected.
It is estimated that the current worldwide prevalence may be 1 in 57000.[3]
However, it is thought that around 50% of the patients in the UK remain undiagnosed [4]
