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• W2106573030 abstract "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. CrossrefGoogle Scholar5. MCARDLE B: The quantitative estimation of pyruvic and α-oxoglutaric acids by paper chromatography in blood, urine and cerebrospinal fluid. Biochem. J. 66: 144, 1957. CrossrefMedlineGoogle Scholar6. MCARDLEMACKENZIEWEBSTER BICGR: Studies on intermediate carbohydrate metabolism in multiple sclerosis. J. Neurol. Neurosurg. Psychiat. 23: 127, 1960. CrossrefMedlineGoogle Scholar7. SCHWARTZASHMORERENOLD RJAE: Galactose tolerance in glycogen storage disease. Pediatrics 19: 585, 1957. MedlineGoogle Scholar8. DEUTSCHGOODLOE HFMB: Electrophoretic survey of various animal plasmas. J. Biol. Chem. 161: 1, 1945. CrossrefMedlineGoogle Scholar9. FRYWRIGHT IKPH: The action of hypoglycaemic sulphonylureas on carbohydrate metabolism in the fasted rat. Brit. J. Pharm. 12: 350, 1957. Google Scholar10. MASONANDERSON HHDH: Glycogen disease of the liver (Von Gierke's disease) with hepatomata: case report with metabolic studies. Pediatrics 16: 785, 1955. MedlineGoogle Scholar11. CORI GT: Glycogen structure and enzyme deficiencies in storage disease. Harvey Lect. Series XLVIII: 145, 1954. Google Scholar12. CHIQUOINE AD: The distribution of glucose-6-phosphatase in the liver and kidney of the mouse. J. Histochem. Cytochem. 1: 429, 1953. CrossrefMedlineGoogle Scholar13. BROWNMALLORY JBGK: Renal changes in gout. New Engl. J. Med. 243: 325, 1950. CrossrefMedlineGoogle Scholar14. KOLBDELALLAGOFMAN FOOFJW: The hyperlipemias in disorders of carbohydrate metabolism. Serial lipoprotein studies in diabetic acidosis with xanthomatosis and in glycogen storage disease. Metabolism 4: 310, 1955. MedlineGoogle Scholar15. JEUNECHARRATBERTRAND MAJ: Polycoric hépatique hypéruricémie et goutte. Arch. Franc. Pediat. 14: 897, 1957. MedlineGoogle Scholar16. JEUNEFRANCOISJARLOT MRB: Contribution l'étude des polycories glycogeniques du foie. Rev. Int. Hépat. 9: 1, 1959. MedlineGoogle Scholar17. VAN CREVELD S: Glycogen disease. Arch. Dis. Child. 27: 113, 1952. CrossrefMedlineGoogle Scholar18. BENEDICTROCHEYUBIENGUTMANSTETTEN JDMTFEJABD: Incorporation of glycine nitrogen into uric acid in normal and gouty man. Metabolism 1: 3, 1952. MedlineGoogle Scholar19. LOCKIEHUBBARD LMRS: Gout: changes in symptoms and purine metabolism produced by high fat diets in four gouty patients. JAMA 104: 2072, 1935. CrossrefGoogle Scholar20. HARDINGALLINEAGLESVAN WYCK VJKDBAHB: The effect of high fat diets on the uric acid content of the blood. J. Biol. Chem. 63: 37, 1925. CrossrefGoogle Scholar21. ADLERSBERGELLENBERG DM: Effect of carbohydrate and fat in the diet on uric acid excretion. J. Biol. Chem. 128: 379, 1939. CrossrefGoogle Scholar22. MCCARTHYOGRYZLO DDMA: The effects of fasting on uric acid excretion by the kidney, in The Second Canadian Conference on Research in Rheumatic Diseases, II, 76, 1960. Google Scholar23. YUSIROTABERGERHALPERNGUTMAN TFJHLMAB: Effect of sodium lactate infusion on urate clearance in man. Proc. Soc. Exp. Biol. Med. 96: 809, 1957. CrossrefMedlineGoogle Scholar24. HANDLER J: The role of lactic acid in the reduced excretion of uric acid in toxemia of pregnancy. J. Clin. Invest. 39: 1526, 1960. CrossrefMedlineGoogle Scholar25. JEANDETLESTRADET JH: L'Hyperlactacidémie. Cause probable de l'hyperuricémie dans la glycogénose hepatique. Rev. Franc. Etud. Clin. Biol. 6: 71, 1961. MedlineGoogle Scholar26. HOWELLASHTONWYNGAARDEN RRDMJB: Glucose-6-phosphatase deficiency in glycogen storage disease. Pediatrics 29: 553, 1962. MedlineGoogle Scholar27. VAN CREVELD S: Investigations in glycogen disease. Arch. Dis. Child. 9: 9, 1934. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: H. EDWARD HOLLING, M.D., F.R.C.P.Affiliations: Philadelphia, PennsylvaniaFrom the Vascular Section of the Edward B. Robinette Foundation, Department of Medicine, University of Pennsylvania, Philadelphia 4, Pennsylvania.This work was supported by National Institutes of Health grant H-4303 and in part by Hartford Foundation grant III.Requests for reprints should be addressed to H. Edward Holling, M.D., Vascular Section, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia 4, Pennsylvania. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byTophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature reviewPurine Metabolism in the Pathogenesis of Hyperuricemia and Inborn Errors of Purine Metabolism Associated With DiseaseGouty tendinitis revealing glycogen storage disease Type Ia in two adolescentsTendinite goutteuse révélatrice d’une observation de glycogénose type1a de l’adolescentMetabolic control and renal dysfunction in type I glycogen storage diseaseGlomerular and tubular function in glycogen storage diseaseBiochemical evidence for the requirement of continuous glucose therapy in young adults with type 1 glycogen storage diseaseGlycogen storage disease I and hepatocellular tumoursType I glycogen storage disease: Kidney involvement, pathogenesis and its treatmentHyperfiltration and renal disease in glycogen storage disease, type IRenal Disease in Type I Glycogen Storage DiseaseHepatocellular glycogenosis and related pattern of enzymatic changes during hepatocarcinogenesisBiological markers of preneoplastic foci and neoplastic nodules in rodent liverTYPE 1 GLYCOGENOSIS WITH CONTRACTED KIDNEYS AND LIVER CELL ADENOMAEndogenous glucose production in type I glycogen storage diseaseTYPE III GLYCOGENOSIS WITH DEPOSITION OF URATE AND AMYLOIDHepatocellular glycogenosis and hepatocarcinogenesisPränatale Induktion von hepatocellulären Glykogenspeicherarealen und Tumoren bei Mäusen durch ÄthylnitrosoharnstoffClinical Utilization of Alkaline Phosphatase MeasurementsEarly Biological Markers During Liver CarcinogenesisFamilial Liver-Cell Adenomas and Diabetes MellitusUric Acid NephrolithiasisDie LeberThe Etiology and Pathogenesis of GoutDisorders associated with hyperuricemiaDie Cytologie der HepatocarcinogeneseArthritis in inherited disordersGlycogenosis type I (glucose 6-phosphatase deficiency): ultrastructural alterations of hepatocytes in a tumor bearing liverStudies of factors affecting gluconeogenesis and glycolysis in glycogenoses of the liverHepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liverUric acid nephrolithiasisExcessive production of uric acid in type I glycogen storage diseaseGlycogen-Storage Diseases**This review is dedicated to Carl F. Cori on the occasion of his seventieth birthday.: Types I, III, IV, V, VII and Unclassified GlycogenosesStudies of uric acid metabolism in glycogen storage disease associated with gouty arthritisRelationships between glycogen storage disease and tophaceous goutLaboratory Diagnosis of Glycogen DiseasesHyperuricemia in Primary and Renal HypertensionUric Acid Metabolism in Normal Man and in Primary GoutThe interrelationship of glycogen storage disease and goutGoutSignificance of the renal clearance of uric acid in normal and gouty manThe metabolism of a-keto acids in von Gierke's diseaseA Report on Two Adult Patients with Glycogen Storage Disease 1 April 1963Volume 58, Issue 4Page: 654-663KeywordsAcidsBlood plasmaCirrhosisGlycogen storage diseasesGoutLiverLiver diseasesPhotographyPlasma proteinsVascular medicine ePublished: 1 December 2008 Issue Published: 1 April 1963 PDF downloadLoading ..." @default.
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