noun

• In the genitive and attributive, especially in "Pompe's disease". Designating an inherited (autosomal recessive) metabolic disorder in which deficiency of the enzyme acid alpha-glucosidase (acid maltase) leads to the accumulation of glycogen in lysosomes in cardiac and skeletal muscle and other tissues.

  The eponym is often reserved for the infantile form of this disorder, in which symptoms begin in the first few months of life.