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.