History of Pompe Disease

A Dutch pathologist J.C. Pompe first described a 7-month-old infant who died suddenly from the disease in 1932^[1]. After observing idiopathic hypertrophy of the heart and the accumulation of glycogen in all types of tissues, he labeled the disorder "cardiomegalia glycogenica diffusa." Two other reports of infants with similar manifestations soon followed, calling the disorder Pompe disease. Nobel laureate G.T. Cori, who discovered the course of catalytic metabolism of glycogen, classified the disorder as glycogen storage disease type II (GSD-II) in 1954 to reflect the impaired glycogen metabolism of affected patients.^[2]

The nomenclature for Pompe disease has varied over the years, with synonyms that include acid maltase deficiency (AMD), glycogenosis type II, glycogen storage disease type II (GSD-II), and GAA deficiency.

Based on Cori's research and the discovery by C. De Duve of a new organelle, the lysosome, Hers and colleagues in 1963 deduced the metabolic basis of Pompe disease by linking the deposition of glycogen to an inherited absence or shortage of lysosomal enzymes^[3]. As a result, Pompe disease was the first to be classified as a lysosomal storage disease (LSD). This breakthrough led to the ability to diagnose the disease and enabled the search for the chromosomal location of the genetic mutation. In 1970, Engel published one of the early reports of a late-onset form of the disease, describing four adults with syndromes mimicking that of muscular dystrophy or other myopathies^[4]. Nine years later, the gene responsible for the disorder was localized to chromosome 17 and designated GAA on the human gene map.^[5]

References
1. Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932; 76:304. No abstract available.

2. Cori GT. Glycogen structure and enzyme deficiencies in glycogen storage disease. Harvey Lect 1954; 8: 145.

3. Hers HG. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 1963; 86: 11.

4. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970; 93 (3): 599-616.

5. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.