Pompe disease

noun
Pom·​pe disease | \ ˌpäm-ˈpā- How to pronounce Pompe disease (audio) \
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.

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