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Glycogen Storage Diseases Types I-VII Differential Diagnoses

  • Author: Ljubomir Stojanov, MD, PhD; Chief Editor: William D James, MD  more...
 
Updated: Jul 23, 2014
 
 

Diagnostic Considerations

Glycogen storage disease type I

Fructose-1,6-biphosphatase deficiency

Fructose-1-phosphate aldolase deficiency (hereditary fructose intolerance)

Congenital lactic acidosis

GSD type III

GSD type IV

GSD type VI

Niemann-Pick disease, type A

Hyperlipoproteinemia type 1

Disorders of uric acid metabolism

Glycogen storage disease type II

Danon disease (vacuolar cardiomyopathy, skeletal myopathy) caused by mutations of a structural lysosomal protein while the activity of acid maltase is normal

Werdnig-Hoffmann disease

Congenital myopathies

Neurovisceral sphingolipidosis

Ethanol aminosis

Deficiencies of PFK and phosphorylase b kinase

Duchenne muscular dystrophy, especially in the juvenile and adult forms

Organic acidurias

Mitochondrial disorders

Glycogen storage disease type III

Charcot-Marie-Tooth disease

Other myopathies

GSD type I

GSD type II

GSD type IV

GSD type VI

Glycogen storage disease type IV

GSD type II

Other disorders of the neuromuscular system

Galactosemia (galactose-1-phosphate uridyltransferase deficiency)

Organic acidurias

Glycogen storage disease type V

Inflammatory myopathies

GSD type VII

GSD type III

Glycogen storage disease type VI

Other forms of hepatic glycogenoses

Glycogen storage disease type VII

GSD type V

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Ljubomir Stojanov, MD, PhD Lecturer in Metabolism and Clinical Genetics, University of Belgrade School of Medicine, Serbia

Disclosure: Nothing to disclose.

Coauthor(s)

Djordjije Karadaglic, MD, DSc Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro

Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

Acknowledgements

Milos D Pavlovic, MD, PhD Head of Immunodermatology, Professor, Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia

Milos D Pavlovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology

Disclosure: Nothing to disclose.

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An infant with glycogen storage disease type Ia. Note the typical facial aspect resembling a doll's face.
Glycogen storage disease type I. Abdominal sonogram showing large nodules in the liver.
A child with glycogen storage disease type Ia.
Glycogen storage disease type II. Photomicrograph of the liver. Note the intensively stained vacuoles in the hepatocytes (periodic acid-Schiff, original magnification X 27).
Glycogen storage disease type II. Photomicrograph of the liver. Note the regular reticular net and hepatocytes vacuolization (Gordon-Sweet stain, original magnification X 25).
 
 
 
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