Early diagnosis and treatment of Pompe disease can prevent irreversible organ damage

Pompe disease is a rare lysosomal storage disorder for which until recently no treatment was available. The disease is caused by a deficiency of the enzyme acid alpha-glucosidase, leading to glycogen accumulation in heart and skeletal muscle. The clinical spectrum is broad. The most severe classic infantile form presents in the first months of life with progressive muscle weakness and hypertrophic cardiomyopathy. Without treatment these infants die before the age of one year. Less severe forms of the disease present in children and adults with limb-girdle weakness and respiratory problems. In 2006 treatment with enzyme replacement therapy for Pompe disease became available. Clinical studies have shown that this therapy can increase muscle strength, improve cardiomyopathy and prolong survival. Early start of treatment is necessary to maximize therapeutic benefits. Currently a diagnostic delay is often present In all children presenting with persistent muscle weakness and/or hypertrophic cardiomyopathy it is important to perform additional tests to check for Pompe disease in an early stage. Discussing three case reports, this paper emphasizes the need for early diagnostic testing for Pompe disease, so that enzyme replacement therapy can be started before irreversible damage has occurred.