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The Glycogen Storage Diseases and Related Disorders

  • Chapter
Inborn Metabolic Diseases

Abstract

The liver GSDs comprise GSD I, the hepatic presentations of GSD III, GSD IV, GSD VI, the liver forms of GSD IX, and GSD 0. GSD I, -III, -VI, and -IX present with hypoglycaemia, marked hepatomegaly, and retarded growth [6]. GSD I is the most severe of these four conditions, because both glycogenolysis and gluconeogenesis are impaired. Patients with GSD III have a syndrome that includes hepatopathy, myopathy and often cardiomyopathy. Unlike the other hepatic forms of GSD, GSD IV usually manifests in infancy or childhood as hepatic failure with cirrhosis leading to end-stage liver disease. GSD VI and the hepatic forms of GSD IX are classically the mildest forms, but there is recent evidence that optimised therapy decreases the rate of liver pathology and improves growth.

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Authors and Affiliations

  1. Institut de Myologie, Hôpital Pitié Salpêtrière 47-83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Pascal Laforêt

  2. Division of Pediatric Endocrinology, University of Florida, 100296, 32610-0296, Gainesville

    David A. Weinstein

  3. Beatrix Children’s Hospital Groningen, Hanzeplein 1, 9700, Groningen, RB, The Netherlands

    G. Peter A. Smit

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  1. Pascal Laforêt
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  2. David A. Weinstein
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  3. G. Peter A. Smit
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Laforêt, P., Weinstein, D.A., Peter A. Smit, G. (2012). The Glycogen Storage Diseases and Related Disorders. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_6

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