Medical Dictionary

Pompe disease

noun Pom·pe disease \ˌpäm-ˈpā-\
variants: or

Pompe's disease


Medical Definition of Pompe disease

  1. :  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 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


\ˈpȯm-pə\ play ,

Johann Cassianius

(flourished 1932), Dutch physician. Pompe published a description of acid maltase deficiency in 1932.

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capable of being understood in two ways

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