Diagnostic Considerations

For glycogen storage disease type I, also consider the following:

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

For glycogen storage disease type II, also consider the following^[40]:

Infantile form
- Werdnig-Hoffman disease (spinal muscular atrophy I)
- Lysosome-associated membrane protein 2 deficiency (LAMP2) or Danon disease
- Glycogen storage disease IIIa (Glycogen debrancher deficiency)
- Glycogen storage disease type IV
- Fatty acid oxidation disorders
- Endocardial fibroelastosis
- Neurovisceral sphingolipidosis
- Organic acidurias
- Deficiencies of phosphofructokinase (PFK) and phosphorylase B kinase
Juvenile and adult forms
- Polymyositis: progressive, symmetric, unexplained muscle weakness.
- Limb-girdle muscular dystrophy.
- Duchenne-Becker muscular dystrophy.
- Glycogen storage disease type V (McArdle disease)
- Glycogen storage disease type VI (myophosphorylase deficiency, Hers disease)

For glycogen storage disease type III, also consider the following:

Charcot-Marie-Tooth disease
Other myopathies
GSD type I
GSD type II
GSD type IV
GSD type VI

For glycogen storage disease type IV, also consider the following:

Spinal muscular atrophy
Zellweger syndrome
Congenital disorders of glycosylation
Mitochondrial DNA depletion syndromes (eg, MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form)
Duchenne muscular dystrophy
Limb-girdle muscular dystrophy
GSD type II, III
Mitochondrial myopathies
Galactosemia (galactose-1-phosphate uridyltransferase deficiency)
Organic acidurias

For glycogen storage disease type V, also consider the following:

Inflammatory myopathies
GSD type VII
GSD type III

For glycogen storage disease type VI, also consider other forms of hepatic glycogenoses.

For glycogen storage disease type VII, also consider GSD type V.

Differential Diagnoses

Sphingomyelinase Deficiency

Workup

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Media Gallery

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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Author

Catherine Anastasopoulou, MD, PhD, FACE Associate Professor of Medicine, The Steven, Daniel and Douglas Altman Chair of Endocrinology, Sidney Kimmel Medical College of Thomas Jefferson University; Einstein Endocrine Associates, Einstein Medical Center

Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Dipa Avichal, DO Attending Physician, Department of Endocrinology, Diabetes and Metabolism, CHS Physician Partners, PC

Dipa Avichal, DO is a member of the following medical societies: American Association of Clinical Endocrinologists, American Thyroid Association, Endocrine Society

Disclosure: Nothing to disclose.

Daniela F de Lima Corvino, MD Resident Physician, Department of Internal Medicine, Einstein Medical Center

Daniela F de Lima Corvino, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former 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: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for Physician Leadership, American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society, International Society for Clinical Densitometry, Southern Society for Clinical Investigation

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; .

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 Dermatorvenerologists

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

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.