Cori's Disease (Amylo-1.6-Glucosidase Deficiency)

17 January 1963

journal article
Published by Massachusetts Medical Society in New England Journal of Medicine

Vol. 268 (3) , 113-120
https://doi.org/10.1056/nejm196301172680301

Abstract

IT is the purpose of this communication to present a case of hepatomegaly in a Negro girl who was subsequently shown to suffer from glycogen-storage disease. The definite diagnosis was made with the help of repeated glucagon tolerance tests, galactose tolerance test, microscopical tissue examination and biochemical tissue analysis. Thus, this was classified as a case of amylo-1.6-glucosidase deficiency, also known as Cori's disease, since Cori¹ discovered this metabolic disorder and defined its enzymatic defect. To our knowledge, this is the first time the disease has been encountered in a member of the Negro race.Case ReportS.W., a 7-month-old . . .

Keywords

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