Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > glycogen storage disease type 5

glycogen storage disease type 5

Tuesday 22 December 2009

McArdle disease is caused by inherited deficit of human muscle glycogen phosphorylase with subsequent blockade in muscle glycogenolysis. Patients usually experience severe exercise intolerance and ’chronic’ skeletal muscle damage.

McArdle disease is associated with low-level systemic inflammation whereas appropriate exercise induces a similar response in McArdle patients and healthy controls, with a significant increase in the anti-inflammatory myokine IL-6. (18162322)

References

- McArdle disease: another systemic low-inflammation disorder? Lucia A, Smith L, Naidoo M, González-Freire M, Pérez M, Rubio JC, Martín MA, Andreu AL, Arenas J. Neurosci Lett. 2008 Jan 31;431(2):106-11. PMID: 18162322

Portfolio

[an error occurred while processing this directive]