Medical Dictionary

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.

Biographical Note for pompe disease

  • Pompe play \ˈpȯm-pə\, Johann Cassianius (flourished 1932), Dutch physician. Pompe published a description of acid maltase deficiency in 1932.

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