It was first described in 1932 by Dutch pathologist Joannes C. Pompe, who reported the case of a 7 month old infant who died of idiopathic cardiac hypertrophy Pompe JC. Over idiopathische hypertrofie van het hart. Ned Tijdschr Geneeskd 1932; 76:304-311. . This infant was found to have massive glycogen accumulation in many tissues, but predominantly in skeletal and cardiac muscles. In 1963 the disease was linked to an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase ( GAA Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G., eds. The Online Metabolic and Molecular Bases of Inherited Disease. OMMBID ), which is responsible for the breakdown of glycogen to glucose. The result is intra-lysosomal accumulation of glycogen, primarily in muscle cells, that leads to a progressive loss of muscle function.
A program that tracks information about patients’ symptoms and experiences in order to improve understanding of Pompe disease.