Acid maltase deficiency syndrome, Alpha-1,4-glucosidase deficiency, cardiac glycogenosis, cardiomegalia glycogenica diffusa, congenital rhabdomyoma of the heart, generalized glycogenesis, glycogen disease II, glycogen heart disease, glycogen storage disease II, glycogenosis II, glycogenosis-cardiac syndrome.
An extremely rare, progressive, neurodegenerative disorder of childhood characterised by an inborn error of metabolism with deficiency of alpha 1-4 glycosidase. This causes macroglossia, cardiomegaly and generalized weakness due to excessive storage in skeletal muscle, and hepatomegaly. The prognosis is invariably poor. Most children do not survive the first year. Inheritance is autosomal recessive.
It was the first condition to be classified as lysosomal storage disease. Four clinical varieties are recognizable according to the degree of involvement of different organs, although overlapping of symptoms may occur.
1. Cardiomegalic variety
2. Generalized variety
3. Muscular variety
4. Late infantile acid maltase deficiency variety.
As early as in 1864 the German pathologist Rudolf Ludwig Karl Virchow (1821-1902) described a disease picture which was most probably a glycogenosis. In 1928 Emile Gordon Stoloff gave a survey of 34 cases with enlarged hearts in children, of whom 17 probably had Pompe's disease. The Following year Edgar Otto Conrad von Gierke (1877-1945) described a glycogenosis affecting the liver and kidneys. He suggested that the disease was caused by an enzyme defect. However, Joannes Pompe was the first to demonstrate glycogen storage, in 1932. Pompe described the disease picture in his doctoral thesis in 1936. The enzyme deficiency in Pompe's disease was demonstrated by the Belgian physiologist Henri Géry Hers (1923-2008) in 1963. The first complete (sammanhengande) description was done by P. Baudhuin, H. G. Hers and H. Loeb in 1964, and in 1973 A. G. Engel et al. Described threee variants of the disease.
We thank Malcolm H. Duncan for information submitted.
- Emile Gordon Stoloff:
So-called idiopathic enlargement of the heart in infancy and in childhood.
American Journal of Diseases of Children, Chicago, 1928, 36 (6): 1204-1217.
- Simon van Creveld (1894-1971):
Over een bijzondere stoornis in de koolhydraatstof-Wisseling in den kinderleeftijd.
Nederlandsch maandschrift voor geneeskunde, Leiden, 1928, 15: 349-359.
This was the first clinical description of a patient with glycogen storage disease, a 7-year-old boy who presented with a markedly enlarged liver, obesity, and small genitalia.
- Edgar Otto Conrad von Gierke (1877-1945):
Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren).
Beiträge zur pathologischen Anatomie und zur allgemeinen Pathologie, Jena, 1929, 82: 497-513.
Gierke's syndrome: glycogen storage disease I.
- J. C. Pompe:
Over idiopathische hypertrophie van het hart.
Nederlandsch Tijdschrift voor Geneeskunde, Amsterdam, 1932, 76: 304-311.
- Gerty Theresa Radnitz Cori(1896-1957) and Carl Ferdinand Cori (1896-1984):
Glycogen Structure and Enzyme Deficiencies in Glycogen Storage Disease.
Harvey Lectures, 1952-1953, 48: 145-171.
- H. G. Hers;
Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease).
The Biochemical Journal, London, January 1963, 86: 11-16.
- P. Baudhuin, H. G. Hers, H. Loeb:
An electron microscopic and biochemical study of type II glycogenesis.
Laboratory Investigation, New York, 1964, 13.1139-1152.
- A. G. Engel:
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.
- A. G. Engel, M. R. Gomez, M. E. Seybold and E. H. Lambert:
The spectrum and diagnosis of acid maltase deficiency. Neurology. 1973, 23: 95.