GLYCOGEN STORAGE DISEASE OF THE HEART

Abstract

Two cases of glycogen storage disease of the heart occurring in siblings are reported. The first patient died at the Babies Hospital in 1922 and the diagnosis was established at autopsy. The second patient was admitted in 1948 and died after 33 days in the hospital. The family history reveals that the mother of the two patients had eight other children, of whom two are suspected of having succumbed to the same condition. Detailed clinical, chemical and pathologic studies were carried out on the second patient. Numerous chemical determinations were performed both before and after death. The pathologic changes were characteristic of those previously described in cases of glycogen storage disease of the heart. Despite the name of the disease, the abnormal glycogen accumulation and the consequent altered cellular structure were not limited to the heart, but were found in many other organs and tissues of the body. The chemical data revealed an apparently normal sequence of events in the mechanisms for carbohydrate metabolism that could be investigated. It was therefore hypothesized that the metabolic error lay in an excessive rate of accumulation of glycogen in the tissues. It was suggested that this might be consequent to the formation of a polysaccharide closely allied to glycogen, but differing from it in its chemical structure, or to inability of these patients to transform carbohydrate to fat.