Skip to main content Pompe disease (glycogen storage disease
type II) is an inherited disorder of glycogen metabolism and a
lysosomal storage disease, caused by a deficiency of the enzyme
alpha-glucosidase (also called GAA and acid-maltase).
Individuals with Pompe disease are unable to use the glycogen
stored in the lysosomes for energy, resulting in the progressive
storage of glycogen in the heart, liver, and skeletal muscle.
Pompe disease can present in infancy with profound hypotonia,
cardiomegaly and cardiomyopathy or later in childhood and
adulthood with progressive muscle weakness and respiratory
insufficiency. Late onset Pompe disease presenting in the second
to seventh decade of life can appear with muscle weakness in the
upper and/or lower extremeties, muscle weakness in the trunk and
shortness of breath after exercise. Diagnosis for Pompe disease
can be made by measuring GAA activity in lymphocytes, blood
spots, or cultured fibroblasts. Deficient activity is diagnostic
for Pompe disease. Transfusion