Pompe disease

noun

Pom·​pe disease ˌpäm-ˈpā- 

variants or Pompe's disease

ˌpäm-ˈpāz-

: 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.