Pompe disease
noun
Pom·pe disease
| \ ˌpäm-ˈpā-
\
\
variants:
or Pompe's disease \ ˌpäm-ˈpāz- \
Medical Definition of Pompe disease
: an inherited glycogen storage disease that is characterized by the abnormal accumulation of glycogen especially in skeletal and cardiac muscle tissue and that results from a deficiency in a lysosomal enzyme which breaks down glycogen into glucose
— called also acid maltase deficiency
Note: Pompe disease has a severe infantile form appearing within the first months of life and typically causing death in the first year of life. It also has a late-onset form appearing in children or adults and having a slower progression that mainly affects skeletal muscle tissue. Pompe disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.