Glycogen storage disease type 5
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Synopsis

Glycogen storage disease type 5 (McArdle disease) is an autosomal recessive disease affecting muscle function. A mutation on the muscle glycogen phosphorylase gene, PYGM, creates a myophosphorylase deficiency so that muscle glycogen cannot be adequately broken down. Patients typically present with fatigue, myalgia, muscle cramps or weakness, poor endurance, myoglobinuria, and elevated levels of creatinine kinase. Diagnosis typically occurs by early adulthood but may first present in older adults with progressively worsening weakness. Some patients will experience complications such as rhabdomyolysis or acute renal failure.
Codes
ICD10CM:
E74.00 – Glycogen storage disease, unspecified
SNOMEDCT:
55912009 – Glycogen storage disease, type V
E74.00 – Glycogen storage disease, unspecified
SNOMEDCT:
55912009 – Glycogen storage disease, type V
Differential Diagnosis & Pitfalls
- Other glycogen storage disease types (eg, types 7, 9, 10, 11)
- Mitochondrial myopathy (eg, Pearson syndrome, Leigh syndrome)
- Myoadenylate deaminase deficiency
- Disorders of fatty acid metabolism
Best Tests
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References
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Last Updated:01/16/2022