Glycogen Storage Diseases Types I-VII Differential Diagnoses

Updated: Dec 01, 2022
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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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