Gout and Glycogen Storage Disease

作者：Heinz Holling · 发表于：Annals of Internal Medicine · 年份：1963 · DOI：10.7326/0003-4819-58-4-654 · 被引用次数：50 · 研究领域：Glycogen Storage Diseases and Myoclonus、Metabolism and Genetic Disorders、Folate and B Vitamins Research

Article1 April 1963Gout and Glycogen Storage DiseaseH. EDWARD HOLLING, M.D., F.R.C.P.H. EDWARD HOLLING, M.D., F.R.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-58-4-654 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThis report completes the clinical account of a brother and 2 sisters who now have been reported 3 times, each time under a different diagnosis. They were first described in 1926 by Poynton and Wyllie (1) as examples of familial cirrhosis. This diagnosis was corrected in 1936 when they were again described in an account of glycogen storage disease of the liver by Ellis and Payne (2). Two of them are now presented as examples of gout associated with glycogen storage disease.All 3 patients appear to have had the form of glycogen storage disease in which the glucose-6-phosphatase activity...References1. POYNTONWYLLIE FJWG: Hepatic cirrhosis in children; biliary forms. Arch. Dis. Child. 1: 1, 1926. CrossrefMedlineGoogle Scholar2. ELLISPAYNE RWWW: Glycogen disease (Von Gierke's disease; hepato (nephro) megalia glycogenica). Quart. J. Med. 5: 31, 1936. Google Scholar3. BARKERSUMMERSON SBWH: Colorimetric determination of lactic acid in biological material. J. Biol. Chem. 138: 535, 1941. CrossrefGoogle Scholar4. FRIEDEMANNHAUGEN TEGF: The determination of keto acids in blood and urine. J. Biol. Chem. 147: 415, 1943. Cro...