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Detection of Heterozygous Carriers in Glycogen Storage Disease of the Liver (von Gierke's Disease)

Abstract

IN 1929, von Gierke1 described a rare congenital disorder of carbohydrate metabolism characterized by excessive deposition of glycogen in various organs of the body. Cori and Cori2 have shown that there is a deficiency of glucose-6-phosphatase activity in the liver in such patients. The occurrence of this condition in siblings3 and among the offsprings of consanguineous matings4, together with its equal distribution in both sexes, suggests that it is probably transmitted by a single autosomal recessive gene. In this situation, one would expect the disease to occur only in persons who receive two of the abnormal genes, one from each parent. If an individual is heterozygous for the condition, he will usually be free of clinical symptoms. Careful biochemical studies, however, might reveal minor departures from the norm5.

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HSIA, DY., KOT, E. Detection of Heterozygous Carriers in Glycogen Storage Disease of the Liver (von Gierke's Disease). Nature 183, 1331–1332 (1959). https://doi.org/10.1038/1831331a0

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