Pompe's Disease is caused by a deficiency or total lack of the enzyme 'acid alpha glucosidase', This enzyme is responsible for breaking down excess glycogen which accumulates in the lysosomes of the muscles. Because the Pompe’s patient is deficient in this enzyme, the excess glycogen is not broken down and continues to accumulate in the muscle-cells. This results in progressive muscle damage and severe muscle weakness, so that normal muscle function is increasingly impaired. Respiratory muscles are also involved, severely affecting pulmonary function and, in time, most - if not all - patients will need ventilator support.
Pompe’s Disease can present itself at any age from birth to older adults, its severity often depending on the age of onset, and level of enzyme activity.
Babies have the most severe - ‘infantile’ - form of Pompe’s Disease, and can develop symptoms in the first few months of life.
These can include muscle weakness, feeding problems, enlarged liver and heart, and respiratory problems, due to a total lack, or a severe deficiency of the enzyme 'acid alpha glucosidase'.
The ’infantile’ form of Pompe's Disease will progress very quickly and, without treatment, these babies may not live longer than twelve months.
However, Pompe’s Disease can now be treated!
Genzyme’s Myozyme - an Enzyme Replacement Therapy - allows Pompe’s patients to look at a much brighter future.
