What Is McArdle Disease?
4. Causes
The missing enzyme that causes Mcardle disease is muscle glycogen phosphorylase. The reason for the absence of the enzyme is a flaw in the gene responsible for producing the enzyme. It is a congenital condition, meaning the patient will be born with it and it cannot be acquired later in life.
In order for somebody to have Mcardle disease, they must have inherited a copy of the gene from both parents. Those that receive a copy of the faulty gene from only one parent are unlikely to develop the condition. This is one of the reasons why the condition is as rare as it is.
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