Medical Definition of Pompe disease

1. Severe glycogen storage disease, also called glycogenosis II, is caused by deficiency of alpha-1,4-glucosidase, the lysosomal enzyme responsible for glycogen hydrolysis. Even though the nonlysosomal glycogenolytic system is normal, glycogen still accumulates in the lysosomes in almost all tissues, but produces especially severe effects in skeletal and cardiac muscle leading to early mortality. Specific enzyme assay in muscle cells, leukocytes or amniocytes confirms the diagnosis. (29 Dec 1997)

Lexicographical Neighbors of Pompe Disease

Pomatomus saltatrix
Pomerania
Pomeranian
Pomeranians
Pomeroy
Pomeroy's operation
Pommyland
Pomo
Pomoan
Pomolobus
Pomolobus pseudoharengus
Pomoxis
Pomoxis annularis
Pomoxis nigromaculatus
Pompe's disease
Pompe disease (current term)
Pompeian
Pompeian red
Pompeiana
Pompeians
Pompeii
Pompeiian
Pompeiians
Pompey
Pompey the Great
Pompocali
Pomptine
Ponca
Poncirus
Poncirus trifoliata

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