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 ◆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 \ˈpȯm-pə\ play ,
Johann Cassianius (flourished 1932), Dutch physician. Pompe published a description of acid maltase deficiency in 1932.
Seen and Heard
What made you want to look up Pompe disease? Please tell us where you read or heard it (including the quote, if possible).