title: [Pompe and his disease].
abstract: Johannes Cassianus Pompe (1901-1945) studied medicine in Utrecht and trained in Amsterdam as a pathologist. In 1932 he reported on his findings in a girl of 7 months, who had succumbed to extreme hypertrophy of the heart. Microscopical analysis showed accumulation of glycogen not only in the heart, but also in the liver, kidneys and skeletal muscles. Pompe's life was cut short near the end of World War II, when he was arrested and eventually executed by the occupying forces. Currently Pompe's disease has been classified as glycogen storage disease type II, caused by deficiency of the lysosomal enzyme alpha-glucosidase. If the deficiency is partial, the disease manifests later in life, as muscle weakness. Enzyme replacement therapy is now feasible.
authors.affiliation: Nederlands Tijdschrift voor Geneeskunde, Amsterdam, the Netherlands. jan@vangijn.com
authors.forename: Jan
authors.initials: J
authors.lastname: van Gijn
authors.forename: Joost P
authors.initials: JP
authors.lastname: Gijselhart
mesh_terms: D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D009426:Netherlands; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: D000520:alpha-Glucosidases