Genetics of Glycogen-Storage Disease Type V (McArdle Disease) Differential Diagnoses

Updated: Mar 05, 2018
  • Author: Noura Al Dhaheri, MBBS, FAAP; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

The differential diagnoses of McArdle disease include conditions that affect the skeletal muscle’s ability to utilize glycogen stores or other sources of energy, such as fatty acid oxidation defects or impaired mitochondrial function resulting in muscle pain and elevated creatine kinase levels, such as in the following disorders:

Other glycogen storage disorders:

  • Glycogen storage disease X (phosphoglycerate mutase deficiency) (OMIM 261670)
  • Glycogen storage disease VII (phosphofructokinase deficiency) (OMIM 232800)
  • Glycogen storage disease XI (lactate dehydrogenase deficiency) (OMIM 612933)
  • Glycogen storage disease IXB (phosphorylase B kinase deficiency) (OMIM 261750)

Fatty acid oxidation defects:

  • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM 201475)
  • Mitochondrial trifunctional protein (MTP) deficiency (OMIM 609015)
  • Carnitine palmitoyl transferase II deficiency (255110)

Other: Mitochondrial myopathy

Differential Diagnoses